ATAVDB
Home About Terms Contact
 Sign In

Gene: CLCN3

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-170541724-C-T c.-507C>T 5_prime_UTR_premature_start_codon_gain CLCN3 2 2922 6.84463E-4 1461 0 NA
4-170541729-C-G c.-502C>G 5_prime_UTR_premature_start_codon_gain CLCN3 1 2934 3.40832E-4 1467 0 0.00194329
4-170541764-C-T c.-467C>T 5_prime_UTR_premature_start_codon_gain CLCN3 1 2956 3.38295E-4 1478 0 3.18471E-5
4-170541869-A-G c.-362A>G 5_prime_UTR_premature_start_codon_gain CLCN3 1 2958 3.38066E-4 1479 0 NA
4-170541903-G-C c.-328G>C 5_prime_UTR_premature_start_codon_gain CLCN3 2 2958 6.76133E-4 1479 0 1.59236E-4
4-170542197-A-G c.-34A>G 5_prime_UTR_premature_start_codon_gain CLCN3 3 2958 0.0010142 1479 0 0.00181517
4-170557059-C-A c.-16-5C>A splice_region CLCN3 2 81686 2.4484E-5 40843 0 4.99042E-6
4-170557060-A-G c.-16-4A>G splice_region CLCN3 1 81794 1.22258E-5 40897 0 NA
4-170557086-T-A p.Ser3Thr missense CLCN3 4 82826 4.8294E-5 41413 0 6.37471E-5
4-170557102-A-G p.His8Arg missense CLCN3 1 83124 1.20302E-5 41562 0 NA
4-170557103-T-C p.His8His synonymous CLCN3 5 83112 6.01598E-5 41556 0 4.0565E-6
4-170557116-A-G p.Arg13Gly missense CLCN3 1 83184 1.20215E-5 41592 0 NA
4-170557117-G-C p.Arg13Thr missense CLCN3 2 83182 2.40437E-5 41591 0 8.27267E-6
4-170557123-G-A p.Ser15Asn missense CLCN3 3 83212 3.60525E-5 41606 0 NA
4-170557124-C-T p.Ser15Ser synonymous CLCN3 2 83206 2.40367E-5 41603 0 4.13455E-5
4-170557129-A-G p.Asn17Ser missense CLCN3 2 83196 2.40396E-5 41598 0 3.19178E-5
4-170557134-A-G p.Ile19Val missense CLCN3 1 83212 1.20175E-5 41606 0 8.26241E-6
4-170557189-A-G p.Asp37Gly missense CLCN3 1 83212 1.20175E-5 41606 0 2.79E-5
4-170557193-T-C p.Phe38Phe synonymous CLCN3 1 83208 1.20181E-5 41604 0 NA
4-170557196-A-G p.Gln39Gln synonymous CLCN3 39 83212 4.68682E-4 41606 0 8.59927E-4
4-170557213-A-G p.Asn45Ser missense CLCN3 2 83156 2.40512E-5 41578 0 8.26392E-6
4-170557223-T-C p.Met1? start_lost CLCN3 4 83116 4.81255E-5 41558 0 NA
4-170557225-G-A p.Gly49Asp missense CLCN3 2 83108 2.40651E-5 41554 0 6.37105E-5
4-170557240-G-GAACTCAT c.160+1_160+2insAACTCAT splice_donor CLCN3 3 83000 3.61446E-5 41500 0 NA
4-170581219-G-A c.-302G>A 5_prime_UTR_premature_start_codon_gain CLCN3 1 24596 4.0657E-5 12298 0 NA
4-170581357-G-A c.-164G>A 5_prime_UTR_premature_start_codon_gain CLCN3 1 34836 2.87059E-5 17418 0 NA
4-170581495-T-G c.-26T>G 5_prime_UTR_premature_start_codon_gain CLCN3 14 71490 1.95832E-4 35745 0 1.28222E-4
4-170581504-A-G c.-17A>G 5_prime_UTR_premature_start_codon_gain CLCN3 1 71728 1.39416E-5 35864 0 NA
4-170581506-T-G c.-15T>G 5_prime_UTR_premature_start_codon_gain CLCN3 1 72206 1.38493E-5 36103 0 NA
4-170581527-G-A p.Ala3Thr missense CLCN3 1 73334 1.36362E-5 36667 0 NA
4-170581531-C-T p.Ser4Phe missense CLCN3 2 73478 2.7219E-5 36739 0 NA
4-170581535-C-T p.Ser5Ser synonymous CLCN3 3 73286 4.09355E-5 36643 0 NA
4-170581547-G-A p.Leu9Leu synonymous CLCN3 2 73014 2.7392E-5 36507 0 2.02741E-5
4-170581549-C-T p.Pro10Leu missense CLCN3 1 73084 1.36829E-5 36542 0 NA
4-170581556-C-T p.Asp12Asp synonymous CLCN3 1 73062 1.3687E-5 36531 0 2.06441E-5
4-170581566-G-A p.Asp16Asn missense CLCN3 4 73286 5.45807E-5 36643 0 NA
4-170581570-G-A p.Ser17Asn missense CLCN3 71146 72006 0.988057 36003 35175 0.9975
4-170581572-A-C p.Ile18Leu missense CLCN3 13 72882 1.78371E-4 36441 0 2.04499E-4
4-170581573-T-C p.Ile18Thr missense CLCN3 1 72954 1.37073E-5 36477 0 NA
4-170581586-A-T p.Glu22Asp missense CLCN3 40 72466 5.51983E-4 36233 0 0.00105263
4-170581591-A-C p.His24Pro missense CLCN3 1 72428 1.38068E-5 36214 0 NA
4-170581592-T-C p.His24His synonymous CLCN3 210 72408 0.00290023 36204 1 0.00595428
4-170581596-A-C p.Arg26Arg synonymous CLCN3 1 72340 1.38236E-5 36170 0 NA
4-170581606-C-CTA c.79+7_79+8insTA splice_region CLCN3 1 71880 1.39121E-5 35940 0 NA
4-170584684-T-A p.Ser9Thr missense CLCN3 1 6686 1.49566E-4 3343 0 NA
4-170584685-C-G p.Ser9Cys missense CLCN3 1 6740 1.48368E-4 3370 0 9.76499E-5
4-170584703-C-G p.Ala15Gly missense CLCN3 1423 7638 0.186305 3819 141 0.381414
4-170584773-G-A c.109+5G>A splice_region CLCN3 10 9894 0.00101071 4947 1 0.00318735
4-170601208-T-A p.His56Gln missense CLCN3 1 82596 1.21071E-5 41298 0 1.19394E-5
4-170601220-A-T p.Thr60Thr synonymous CLCN3 9 82912 1.08549E-4 41456 0 1.59205E-4
4-170601238-C-T p.Asn66Asn synonymous CLCN3 5 83220 6.00817E-5 41610 0 5.06586E-4
4-170601242-T-G p.Ser68Ala missense CLCN3 3 83272 3.60265E-5 41636 0 4.11997E-5
4-170601246-C-T p.Thr69Ile missense CLCN3 4 83278 4.80319E-5 41639 0 NA
4-170601275-A-C p.Ile79Leu missense CLCN3 1 83378 1.19936E-5 41689 0 3.18471E-5
4-170601275-A-G p.Ile79Val missense CLCN3 1 83378 1.19936E-5 41689 0 8.24158E-6
4-170601296-G-A p.Asp86Asn missense CLCN3 1 83378 1.19936E-5 41689 0 NA
4-170601316-T-C p.Asp92Asp synonymous CLCN3 1 83382 1.1993E-5 41691 0 0.00100705
4-170601319-G-C p.Trp93Cys missense CLCN3 2 83382 2.3986E-5 41691 1 NA
4-170601328-A-G p.Glu96Glu synonymous CLCN3 1 83378 1.19936E-5 41689 0 NA
4-170601349-G-A p.Arg103Arg synonymous CLCN3 9 83356 1.07971E-4 41678 0 5.03525E-4
4-170601351-A-G p.His104Arg missense CLCN3 1 83354 1.1997E-5 41677 0 4.0066E-6
4-170601356-C-A p.Arg106Arg splice_region+synonymous CLCN3 2 83346 2.39964E-5 41673 0 3.18776E-5
4-170601358-G-C p.Arg106Arg splice_region+synonymous CLCN3 1 83342 1.19988E-5 41671 0 NA
4-170601362-A-G c.318+4A>G splice_region CLCN3 1 83320 1.20019E-5 41660 0 NA
4-170601364-TG-T c.318+7delG splice_region CLCN3 1 83304 1.20042E-5 41652 0 3.1841E-5
4-170608811-C-G p.Ile107Met missense+splice_region CLCN3 2 82650 2.41984E-5 41325 0 NA
4-170608835-A-G p.Ala115Ala synonymous CLCN3 1 83132 1.20291E-5 41566 0 NA
4-170608855-T-C p.Leu122Ser missense CLCN3 1 83278 1.2008E-5 41639 0 NA
4-170608858-A-G p.Tyr123Cys missense CLCN3 1 83278 1.2008E-5 41639 0 NA
4-170608864-C-T p.Ala125Val missense CLCN3 1 83260 1.20106E-5 41630 0 8.13094E-6
4-170608865-G-A p.Ala125Ala synonymous CLCN3 2 83260 2.40211E-5 41630 0 1.65341E-5
4-170608886-A-G p.Val132Val synonymous CLCN3 2 83204 2.40373E-5 41602 0 NA
4-170608898-A-G p.Gly136Gly synonymous CLCN3 1 82762 1.20828E-5 41381 0 NA
4-170608909-G-GGGCACTGGCCGGATTAATAGACATTGCTGCCGATTGGA c.418+1_418+2insGGCACTGGCCGGATTAATAGACATTGCTGCCGATTGGA splice_donor CLCN3 1 82520 1.21183E-5 41260 0 NA
4-170608909-G-GGGCACTGGCCGGATTAATAGACATTGCTGCCGATTGGATGACTGACC c.418+1_418+2insGGCACTGGCCGGATTAATAGACATTGCTGCCGATTGGATGACTGACC splice_donor CLCN3 2 82520 2.42365E-5 41260 1 NA
4-170608916-A-G c.418+8A>G splice_region CLCN3 1 82522 1.2118E-5 41261 0 NA
4-170610190-A-G c.419-4A>G splice_region CLCN3 3 83290 3.60187E-5 41645 0 NA
4-170610198-A-T p.Ala141Ala synonymous CLCN3 1 83338 1.19993E-5 41669 0 NA
4-170610204-C-T p.Ala143Ala synonymous CLCN3 2 83354 2.3994E-5 41677 0 6.37105E-5
4-170610240-C-T p.Asp155Asp synonymous CLCN3 1 83400 1.19904E-5 41700 0 1.64728E-5
4-170610250-G-A p.Gly159Ser missense CLCN3 1 83402 1.19901E-5 41701 0 NA
4-170610263-G-T p.Ser163Ile missense CLCN3 2 83398 2.39814E-5 41699 0 NA
4-170610266-C-T p.Ala164Val missense CLCN3 3 83398 3.59721E-5 41699 0 8.23655E-6
4-170610267-G-A p.Ala164Ala synonymous CLCN3 7 83400 8.39329E-5 41700 0 1.91058E-4
4-170610328-G-C p.Asp185His missense CLCN3 2 83358 2.39929E-5 41679 0 NA
4-170610341-A-G p.Gln189Arg missense CLCN3 1 83354 1.1997E-5 41677 0 8.2375E-6
4-170610366-C-A p.Ile197Ile synonymous CLCN3 1 83316 1.20025E-5 41658 0 2.47378E-5
4-170610373-C-G p.Gln200Glu missense CLCN3 4 83302 4.80181E-5 41651 0 2.47615E-5
4-170610381-G-A p.Glu202Glu splice_region+synonymous CLCN3 8 83272 9.60707E-5 41636 0 1.59236E-4
4-170611677-T-G c.607-4T>G splice_region CLCN3 1 83262 1.20103E-5 41631 0 1.6629E-5
4-170611707-C-T p.Tyr211Tyr synonymous CLCN3 1 83340 1.1999E-5 41670 0 3.97902E-6
4-170611715-A-T p.Tyr214Phe missense CLCN3 2 83352 2.39946E-5 41676 0 3.97817E-6
4-170611719-C-T p.Ile215Ile synonymous CLCN3 1 83354 1.1997E-5 41677 0 NA
4-170611721-T-C p.Phe216Ser missense CLCN3 2 83354 2.3994E-5 41677 0 NA
4-170611729-T-G p.Leu219Val missense CLCN3 1 83356 1.19967E-5 41678 0 NA
4-170611782-C-A p.Ala236Ala synonymous CLCN3 2 83314 2.40056E-5 41657 1 NA
4-170611797-T-C p.Ile241Ile synonymous CLCN3 2 83292 2.40119E-5 41646 0 NA
4-170611809-C-A c.729+6C>A splice_region CLCN3 1 83234 1.20143E-5 41617 0 1.66027E-5
4-170611810-C-T c.729+7C>T splice_region CLCN3 4 83230 4.80596E-5 41615 0 3.25523E-5
4-170613279-A-G p.Leu248Leu synonymous CLCN3 1 82822 1.20741E-5 41411 0 NA
4-170613299-GT-G p.Tyr256fs frameshift CLCN3 1 83004 1.20476E-5 41502 0 NA
4-170613324-G-T p.Met263Ile missense CLCN3 2 83110 2.40645E-5 41555 0 NA
4-170613330-A-G p.Lys265Lys synonymous CLCN3 2 83170 2.40471E-5 41585 0 NA
4-170613333-C-G p.Thr266Thr synonymous CLCN3 1 83188 1.2021E-5 41594 0 3.18979E-5
4-170613339-A-G p.Thr268Thr synonymous CLCN3 1 83202 1.20189E-5 41601 0 3.97772E-6
4-170613354-G-A p.Val273Val synonymous CLCN3 4 83244 4.80515E-5 41622 0 1.27543E-4
4-170613393-A-C p.Val286Val synonymous CLCN3 1 83258 1.20109E-5 41629 0 NA
4-170613402-C-G p.Ala289Ala synonymous CLCN3 2 83266 2.40194E-5 41633 0 3.18715E-5
4-170613409-T-A p.Cys292Ser missense CLCN3 1 83260 1.20106E-5 41630 0 NA
4-170613411-C-T p.Cys292Cys synonymous CLCN3 5 83256 6.00557E-5 41628 0 1.27657E-4
4-170613447-C-T p.Ser304Ser synonymous CLCN3 1 83184 1.20215E-5 41592 0 3.98127E-6
4-170613453-C-T p.Asn306Asn synonymous CLCN3 1 82944 1.20563E-5 41472 0 6.5368E-5
4-170613473-T-TGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACC c.936+2_936+3insGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACC splice_region CLCN3 1 82634 1.21016E-5 41317 0 NA
4-170613473-T-TGCTATCAGCTGCCTCAGCTGC c.936+2_936+3insGCTATCAGCTGCCTCAGCTGC splice_region CLCN3 2 82634 2.42031E-5 41317 1 NA
4-170613478-G-A c.936+7G>A splice_region CLCN3 4 82454 4.85119E-5 41227 0 1.65175E-5
4-170616768-A-G p.Leu314Leu synonymous CLCN3 2 82994 2.40981E-5 41497 0 NA
4-170616774-T-C p.Ala316Ala synonymous CLCN3 1 83050 1.20409E-5 41525 0 NA
4-170616782-C-G p.Ala319Gly missense CLCN3 1 83090 1.20351E-5 41545 0 NA
4-170616801-T-G p.Ala325Ala synonymous CLCN3 1 83128 1.20296E-5 41564 0 NA
4-170616844-G-GT c.1017+1_1017+2insT splice_donor CLCN3 8 82854 9.65554E-5 41427 3 NA
4-170618414-G-A p.Arg364Arg synonymous CLCN3 6 83216 7.21015E-5 41608 0 5.77701E-5
4-170618426-A-G p.Pro368Pro synonymous CLCN3 2 83242 2.40263E-5 41621 0 5.77006E-5
4-170618440-G-A p.Arg373His missense CLCN3 3 83274 3.60256E-5 41637 0 2.3881E-5
4-170618448-C-CT p.Tyr378fs frameshift CLCN3 1 83292 1.2006E-5 41646 0 NA
4-170618453-T-C p.Phe377Phe synonymous CLCN3 1 83298 1.20051E-5 41649 0 NA
4-170618474-A-T p.Pro384Pro synonymous CLCN3 3 83330 3.60014E-5 41665 0 3.295E-5
4-170618495-T-A p.Phe391Leu missense CLCN3 1 83338 1.19993E-5 41669 0 NA
4-170618529-T-TG p.Ala405fs frameshift CLCN3 1 83330 1.20005E-5 41665 0 NA
4-170618542-T-C p.Phe407Ser missense CLCN3 1 83326 1.20011E-5 41663 0 3.98023E-6
4-170618569-G-A p.Arg416His missense CLCN3 5 83300 6.0024E-5 41650 0 4.85468E-4
4-170618573-A-G p.Arg417Arg synonymous CLCN3 1 83292 1.2006E-5 41646 0 NA
4-170618576-C-T p.Arg418Arg synonymous CLCN3 1 83284 1.20071E-5 41642 0 NA
4-170618584-C-T p.Thr421Met missense CLCN3 10 83276 1.20083E-4 41638 0 5.03525E-4
4-170618585-G-A p.Thr421Thr synonymous CLCN3 9 83280 1.08069E-4 41640 0 3.18451E-5
4-170618598-T-C p.Tyr426His missense CLCN3 1 83258 1.20109E-5 41629 0 NA
4-170618603-C-T p.Pro427Pro synonymous CLCN3 3 83260 3.60317E-5 41630 0 5.96773E-5
4-170618604-G-A p.Val428Ile missense CLCN3 1 83254 1.20114E-5 41627 0 NA
4-170618607-C-G p.Leu429Val missense CLCN3 1 83244 1.20129E-5 41622 0 8.23818E-6
4-170618607-C-T p.Leu429Leu synonymous CLCN3 1 83244 1.20129E-5 41622 0 NA
4-170618626-C-T p.Ala435Val missense CLCN3 1 83262 1.20103E-5 41631 0 6.36659E-5
4-170618639-T-A p.Ala439Ala synonymous CLCN3 1 83250 1.2012E-5 41625 0 8.23859E-6
4-170618663-C-T p.Tyr447Tyr synonymous CLCN3 2 83260 2.40211E-5 41630 0 NA
4-170618678-C-T p.Thr452Thr synonymous CLCN3 39 83250 4.68468E-4 41625 0 3.42169E-4
4-170618685-C-G p.Leu455Val missense CLCN3 5 83240 6.00673E-5 41620 0 3.58052E-5
4-170618691-A-G p.Lys457Glu missense CLCN3 1 83246 1.20126E-5 41623 0 3.97798E-6
4-170618714-TC-T p.Leu466fs frameshift CLCN3 1 83172 1.20233E-5 41586 0 NA
4-170618717-C-T p.Pro465Pro synonymous CLCN3 2 83176 2.40454E-5 41588 0 NA
4-170618755-T-C p.Met478Thr missense CLCN3 1 83078 1.20369E-5 41539 0 NA
4-170618763-A-G p.Ser481Gly missense CLCN3 2 83050 2.40819E-5 41525 0 8.23873E-6
4-170618781-A-G p.Ile487Val missense CLCN3 2 83020 2.40906E-5 41510 0 6.3678E-5
4-170618790-C-T p.Arg490Cys missense CLCN3 2 82978 2.41028E-5 41489 0 NA
4-170618795-A-G p.Pro491Pro synonymous CLCN3 1 82964 1.20534E-5 41482 0 6.59239E-5
4-170618838-G-A p.Ala506Thr missense CLCN3 1 82804 1.20767E-5 41402 0 3.1839E-5
4-170618845-T-C p.Ile508Thr missense CLCN3 1 82832 1.20726E-5 41416 0 8.33987E-6
4-170618859-A-G p.Met513Val missense CLCN3 2 82820 2.41488E-5 41410 0 5.90697E-5
4-170618880-A-G p.Ile520Val missense CLCN3 1 82888 1.20645E-5 41444 0 NA
4-170618882-C-T p.Ile520Ile synonymous CLCN3 1 82896 1.20633E-5 41448 0 NA
4-170618887-T-TTCC c.1563+2_1563+3insTCC splice_region CLCN3 6 82898 7.23781E-5 41449 3 NA
4-170618887-T-TTCCATCAGGCTTGTTCATCCCCAGCATGGCCATTGGAGCGATCGC c.1563+2_1563+3insTCCATCAGGCTTGTTCATCCCCAGCATGGCCATTGGAGCGATCGC splice_region CLCN3 2 82898 2.4126E-5 41449 1 NA
4-170618887-T-TTCCATCAGGCTTGTTCATCCCCAGCATGGCCATTGGAGCGATCGCAGG c.1563+2_1563+3insTCCATCAGGCTTGTTCATCCCCAGCATGGCCATTGGAGCGATCGCAGG splice_region CLCN3 1 82898 1.2063E-5 41449 0 NA
4-170618888-A-T c.1563+3A>T splice_region CLCN3 1 82890 1.20642E-5 41445 0 4.18015E-5
4-170618890-G-A c.1563+5G>A splice_region CLCN3 2 82898 2.4126E-5 41449 0 NA
4-170625144-T-TA c.1564-5_1564-4insA splice_region CLCN3 1 83252 1.20117E-5 41626 0 NA
4-170625154-A-G p.Pro523Pro synonymous CLCN3 1 83290 1.20062E-5 41645 0 6.37227E-5
4-170625169-C-T p.Ile528Ile synonymous CLCN3 1 83288 1.20065E-5 41644 0 8.24579E-6
4-170625183-T-C p.Ile533Thr missense CLCN3 1 83292 1.2006E-5 41646 0 1.64864E-5
4-170625190-G-A p.Ala535Ala synonymous CLCN3 5 83280 6.00384E-5 41640 0 6.37024E-5
4-170625190-G-T p.Ala535Ala synonymous CLCN3 3 83282 3.60222E-5 41641 0 NA
4-170625192-T-C p.Ile536Thr missense CLCN3 1 83280 1.20077E-5 41640 0 NA
4-170625193-C-T p.Ile536Ile synonymous CLCN3 1 83290 1.20062E-5 41645 0 3.98007E-6
4-170625194-G-C p.Ala537Pro missense CLCN3 1 83296 1.20054E-5 41648 0 NA
4-170625216-C-T p.Ala544Val missense CLCN3 3 83336 3.59988E-5 41668 0 8.24158E-6
4-170625217-G-C p.Ala544Ala synonymous CLCN3 4 83344 4.79939E-5 41672 0 3.18552E-5
4-170625231-CCTA-C p.Tyr551del disruptive_inframe_deletion CLCN3 1 83342 1.19988E-5 41671 0 NA
4-170625237-A-G p.Tyr551Cys missense CLCN3 1 83348 1.19979E-5 41674 0 8.24239E-6
4-170625250-G-C p.Trp555Cys missense CLCN3 1 83356 1.19967E-5 41678 0 NA
4-170625270-G-C p.Cys562Ser missense CLCN3 1 83360 1.19962E-5 41680 0 NA
4-170625274-G-A p.Glu563Glu synonymous CLCN3 1 83358 1.19964E-5 41679 0 NA
4-170625277-C-T p.Val564Val synonymous CLCN3 1 83356 1.19967E-5 41678 0 8.24633E-6
4-170625298-T-C p.Pro571Pro synonymous CLCN3 1 83288 1.20065E-5 41644 0 NA
4-170625324-C-T p.Ala580Val missense CLCN3 14 83142 1.68387E-4 41571 0 3.18593E-4
4-170625328-A-C p.Ala581Ala synonymous CLCN3 1 83088 1.20354E-5 41544 0 NA
4-170625331-C-T p.Cys582Cys synonymous CLCN3 2 83044 2.40836E-5 41522 0 NA
4-170625336-G-A c.1750+1G>A splice_donor CLCN3 1 82966 1.20531E-5 41483 0 NA
4-170628041-C-G p.Val591Val synonymous CLCN3 1 83304 1.20042E-5 41652 0 NA
4-170628047-G-A p.Leu593Leu synonymous CLCN3 8 83318 9.60177E-5 41659 0 6.37582E-5
4-170628068-T-C p.Leu600Leu synonymous CLCN3 5 83354 5.99851E-5 41677 0 5.03525E-4
4-170628082-A-T p.Glu605Val missense CLCN3 2 83350 2.39952E-5 41675 0 NA
4-170628083-A-G p.Glu605Glu synonymous CLCN3 2 83352 2.39946E-5 41676 0 3.97877E-6
4-170628095-C-T p.Pro609Pro synonymous CLCN3 2 83348 2.39958E-5 41674 0 NA
4-170628142-G-A p.Gly625Asp missense CLCN3 1 83346 1.19982E-5 41673 0 1.1934E-5
4-170628172-G-A p.Arg635Gln missense CLCN3 6 83346 7.19891E-5 41673 0 3.18512E-5
4-170628215-T-C p.Thr649Thr synonymous CLCN3 2 83322 2.40033E-5 41661 0 1.81228E-4
4-170628225-C-A p.Leu653Met missense CLCN3 7 83298 8.40356E-5 41649 0 1.59226E-4
4-170628232-C-T p.Ala655Val missense CLCN3 4 83278 4.80319E-5 41639 0 3.97928E-6
4-170628233-T-G p.Ala655Ala synonymous CLCN3 3 83284 3.60213E-5 41642 0 NA
4-170628236-C-T p.Asp656Asp synonymous CLCN3 17 83278 2.04136E-4 41639 0 5.17343E-5
4-170628237-G-A p.Val657Ile missense CLCN3 3 83276 3.60248E-5 41638 0 4.77555E-5
4-170628237-GT-G p.Met658fs frameshift CLCN3 1 83276 1.20083E-5 41638 0 NA
4-170628254-G-C p.Arg662Ser missense CLCN3 1 83238 1.20137E-5 41619 0 NA
4-170628264-C-CAT p.Pro666fs frameshift CLCN3 1 83200 1.20192E-5 41600 0 NA
4-170628266-C-A p.Pro666Pro synonymous CLCN3 1 83184 1.20215E-5 41592 0 NA
4-170628285-G-A p.Asp673Asn missense CLCN3 2 83116 2.40628E-5 41558 0 3.18593E-5
4-170628291-A-G p.Met675Val missense CLCN3 1 83092 1.20349E-5 41546 0 NA
4-170628306-A-G p.Ile680Val missense CLCN3 1 83032 1.20435E-5 41516 0 3.18492E-5
4-170628383-A-G p.Gly705Gly synonymous CLCN3 1 83052 1.20406E-5 41526 0 NA
4-170628392-C-T p.Leu708Leu synonymous CLCN3 1 83018 1.20456E-5 41509 0 1.70914E-5
4-170628407-A-C p.Thr713Thr synonymous CLCN3 1 82922 1.20595E-5 41461 0 NA
4-170634233-G-A p.Ser718Asn missense CLCN3 1 82960 1.2054E-5 41480 0 NA
4-170634240-G-GA p.Gln723fs frameshift CLCN3 1 83030 1.20438E-5 41515 0 NA
4-170634240-G-A p.Arg720Arg synonymous CLCN3 1 83032 1.20435E-5 41516 0 NA
4-170634247-CAAG-C p.Glu724del disruptive_inframe_deletion CLCN3 2 83106 2.40657E-5 41553 0 NA
4-170634258-C-T p.Ile726Ile synonymous CLCN3 6 83160 7.21501E-5 41580 0 9.55475E-5
4-170634259-G-A p.Val727Ile missense CLCN3 1 83180 1.20221E-5 41590 0 4.15117E-5
4-170634260-T-C p.Val727Ala missense CLCN3 1 83186 1.20213E-5 41593 0 NA
4-170634271-C-T p.Arg731Trp missense CLCN3 2 83210 2.40356E-5 41605 0 NA
4-170634272-G-T p.Arg731Leu missense CLCN3 4 83206 4.80735E-5 41603 0 1.19396E-5
4-170634272-G-A p.Arg731Gln missense CLCN3 2 83206 2.40367E-5 41603 0 NA
4-170634284-C-T p.Ala735Val missense CLCN3 1 83214 1.20172E-5 41607 0 3.18431E-5
4-170634285-A-G p.Ala735Ala synonymous CLCN3 14 83218 1.68233E-4 41609 0 7.5593E-5
4-170634286-C-A p.Gln736Lys missense CLCN3 2 83220 2.40327E-5 41610 0 NA
4-170634292-A-G p.Thr738Ala missense CLCN3 8 83220 9.61307E-5 41610 0 8.24525E-5
4-170634295-C-T p.Pro739Ser missense CLCN3 1 83246 1.20126E-5 41623 0 3.97852E-6
4-170634296-C-T p.Pro739Leu missense CLCN3 9 83246 1.08113E-4 41623 0 7.95646E-6
4-170634304-C-T p.Pro742Ser missense CLCN3 1 83262 1.20103E-5 41631 0 NA
4-170634306-A-G p.Pro742Pro synonymous CLCN3 1 83262 1.20103E-5 41631 0 NA
4-170634314-G-A p.Ser745Asn missense CLCN3 2 83260 2.40211E-5 41630 0 NA
4-170634334-C-T p.Arg752* stop_gained CLCN3 1 83282 1.20074E-5 41641 0 8.23764E-6
4-170634368-C-T p.Thr763Ile missense CLCN3 1 83214 1.20172E-5 41607 0 3.97801E-6
4-170634369-A-G p.Thr763Thr synonymous CLCN3 9 83220 1.08147E-4 41610 0 7.95615E-6
4-170634382-A-G p.Met768Val missense CLCN3 4 83162 4.80989E-5 41581 0 8.23723E-5
4-170634390-C-T p.Ile770Ile synonymous CLCN3 10419 82966 0.125582 41483 679 0.14125
4-170634408-A-G p.Arg776Arg synonymous CLCN3 10113 82932 0.121943 41466 943 0.174059
4-170634429-C-T p.Cys783Cys synonymous CLCN3 5 83012 6.02323E-5 41506 0 4.12133E-5
4-170634441-C-T p.His787His synonymous CLCN3 1 82890 1.20642E-5 41445 0 NA
4-170634443-A-G p.Asn788Ser missense CLCN3 1 82856 1.20691E-5 41428 0 1.59285E-5
4-170638957-T-A p.Ile794Asn missense CLCN3 1 82732 1.20872E-5 41366 0 8.27527E-6
4-170638977-T-C p.Leu801Leu synonymous CLCN3 190 82822 0.00229408 41411 1 0.004375
4-170638977-T-G p.Leu801Val missense CLCN3 2 82826 2.4147E-5 41413 0 NA
4-170639002-A-C p.Gln809Pro missense CLCN3 2 82728 2.41756E-5 41364 0 NA
4-170639006-C-T p.His810His synonymous CLCN3 2 82680 2.41896E-5 41340 0 1.65972E-5
4-170639007-G-A p.Val811Ile missense CLCN3 4 82622 4.84133E-5 41311 0 7.96952E-6
4-170639009-C-T p.Val811Val synonymous CLCN3 1 82592 1.21077E-5 41296 0 NA
4-170639010-G-A p.Glu812Lys missense CLCN3 1 82560 1.21124E-5 41280 0 3.18654E-5
4-170641050-C-T c.2443-8C>T splice_region CLCN3 143 82266 0.00173826 41133 0 0.00334395
4-170641051-C-T c.2443-7C>T splice_region CLCN3 1 82292 1.21518E-5 41146 0 NA
4-170641082-A-G p.Lys823Glu missense CLCN3 1 82638 1.2101E-5 41319 0 8.2949E-6
4-170641109-G-A p.Asp832Asn missense CLCN3 3 82850 3.621E-5 41425 0 8.26378E-6
4-170641111-C-T p.Thr780Met missense CLCN3 2 82846 2.41412E-5 41423 0 3.18573E-5
4-170641112-G-A p.Gly833Ser missense CLCN3 594 82844 0.0071701 41422 11 0.0192113
4-170641124-C-T p.Pro837Ser missense CLCN3 1 82930 1.20584E-5 41465 0 7.96933E-6
4-170641127-C-T p.Arg838Cys missense CLCN3 4 82938 4.82288E-5 41469 0 3.18634E-5
4-170641151-C-G p.Leu846Val missense CLCN3 1 83036 1.2043E-5 41518 0 NA
4-170641162-GGAGA-G p.Arg851fs frameshift CLCN3 2 83070 2.40761E-5 41535 0 NA
4-170641176-C-T p.Thr854Met missense CLCN3 19 83100 2.2864E-4 41550 0 4.14197E-4
4-170641176-CG-C p.Glu855fs frameshift CLCN3 3 83100 3.61011E-5 41550 0 3.18613E-5
4-170641177-G-A p.Thr854Thr synonymous CLCN3 2 83098 2.4068E-5 41549 0 1.65041E-5
4-170641181-G-T p.Glu856* stop_gained CLCN3 1 83104 1.20331E-5 41552 0 NA
4-170641193-T-C p.Leu860Leu synonymous CLCN3 2 83070 2.40761E-5 41535 0 1.65158E-5
4-170641512-A-G c.*364A>G splice_region CLCN3 702 46306 0.01516 23153 9 0.0124809
4-170641677-TTCTCTCTCTCTCTCTC-T c.*479_*494delCTCTCTCTCTCTCTCT splice_region CLCN3 39 43220 9.0236E-4 21610 0 NA



Copyright � 2020 Institute for Genomic Medicine. All rights reserved.