ATAVDB
Home About Terms Contact
 Sign In

Gene: NDUFB7

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-14676948-C-A p.Leu137Leu synonymous NDUFB7 1 80310 1.24517E-5 40155 0 3.18959E-5
19-14676957-C-T p.Lys134Lys synonymous NDUFB7 40 80304 4.98107E-4 40152 0 0.00101317
19-14676970-T-C p.Glu130Gly missense NDUFB7 1 80268 1.24583E-5 40134 0 NA
19-14676971-C-T p.Glu130Lys missense NDUFB7 1 80312 1.24514E-5 40156 0 NA
19-14676973-C-G p.Gly129Ala missense NDUFB7 1 80282 1.24561E-5 40141 0 4.0827E-6
19-14676974-C-T p.Gly129Arg missense NDUFB7 2 80256 2.49203E-5 40128 0 0.00151515
19-14676981-C-T p.Gln126Gln synonymous NDUFB7 1 80132 1.24794E-5 40066 0 5.04541E-4
19-14676990-G-C p.Ala123Ala synonymous NDUFB7 1 80038 1.24941E-5 40019 0 3.18756E-5
19-14677002-C-T p.Ala119Ala synonymous NDUFB7 2 79990 2.50031E-5 39995 0 1.2087E-5
19-14677003-G-A p.Ala119Val missense NDUFB7 1 79954 1.25072E-5 39977 0 2.01384E-5
19-14677004-CCTT-C p.Lys118del conservative_inframe_deletion NDUFB7 2 80006 2.49981E-5 40003 0 0.00151057
19-14677005-C-T p.Lys118Lys synonymous NDUFB7 2 80026 2.49919E-5 40013 0 NA
19-14677006-TT-GC p.Lys118Ala missense NDUFB7 12 80024 1.49955E-4 40012 0 NA
19-14677007-T-TC p.Lys118fs frameshift NDUFB7 1 80032 1.2495E-5 40016 0 NA
19-14677010-T-C p.Lys117Glu missense NDUFB7 1 79976 1.25038E-5 39988 0 1.91473E-4
19-14677018-C-T p.Arg114Gln missense NDUFB7 1 80486 1.24245E-5 40243 0 3.18756E-5
19-14677018-C-A p.Arg114Leu missense NDUFB7 1 80486 1.24245E-5 40243 0 NA
19-14677019-GCTT-G p.Lys113del conservative_inframe_deletion NDUFB7 1 80468 1.24273E-5 40234 0 NA
19-14677019-G-A p.Arg114Trp missense NDUFB7 2 80468 2.48546E-5 40234 0 8.49733E-6
19-14677021-T-TTCTTCCGCTGGAGCAGCCTCC p.Arg106_Lys112dup conservative_inframe_insertion NDUFB7 1 80522 1.2419E-5 40261 0 NA
19-14677022-T-G p.Lys113Gln missense NDUFB7 10 80516 1.24199E-4 40258 0 1.43814E-4
19-14677025-T-C p.Lys112Glu missense NDUFB7 1 80516 1.24199E-5 40258 0 NA
19-14677027-C-T p.Arg111Gln missense NDUFB7 9 80532 1.11757E-4 40266 0 1.09586E-4
19-14677032-G-C p.Leu109Leu synonymous NDUFB7 2 80590 2.4817E-5 40295 0 7.99054E-6
19-14677034-G-A p.Leu109Phe missense NDUFB7 1 80588 1.24088E-5 40294 0 6.39304E-5
19-14677043-G-C p.Arg106Gly missense NDUFB7 2 80660 2.47954E-5 40330 0 3.43338E-4
19-14677043-G-A p.Arg106Trp missense NDUFB7 1 80660 1.23977E-5 40330 0 7.98658E-6
19-14677051-T-G p.Glu103Ala missense NDUFB7 5 80682 6.19717E-5 40341 0 1.59707E-5
19-14677052-C-G p.Glu103Gln missense NDUFB7 1 80696 1.23922E-5 40348 0 NA
19-14677053-A-G p.Phe102Phe synonymous NDUFB7 1 80680 1.23946E-5 40340 0 3.18613E-5
19-14677056-C-T p.Glu101Glu synonymous NDUFB7 1 80688 1.23934E-5 40344 0 8.35729E-6
19-14677063-A-G p.Met99Thr missense NDUFB7 1 80650 1.23993E-5 40325 0 NA
19-14677064-T-A p.Met99Leu missense NDUFB7 2 80642 2.4801E-5 40321 0 8.35925E-6
19-14677066-C-T p.Arg98His missense NDUFB7 1 80632 1.2402E-5 40316 0 3.18573E-5
19-14677067-G-C p.Arg98Gly missense NDUFB7 2 80616 2.4809E-5 40308 0 NA
19-14677071-C-T p.Val96Val synonymous NDUFB7 1 80598 1.24073E-5 40299 0 1.20015E-5
19-14677579-G-C p.Arg93Arg splice_region+synonymous NDUFB7 1 60666 1.64837E-5 30333 0 NA
19-14677579-G-A p.Arg93Arg splice_region+synonymous NDUFB7 2 60666 3.29674E-5 30333 0 3.20986E-5
19-14677580-C-T p.Arg93His missense NDUFB7 51 60772 8.39202E-4 30386 3 0.00344832
19-14677587-C-CG p.Glu91fs frameshift NDUFB7 1 63784 1.56779E-5 31892 0 1.07735E-4
19-14677594-G-A p.Asp88Asp synonymous NDUFB7 1 66272 1.50893E-5 33136 0 1.04308E-4
19-14677595-T-C p.Asp88Gly missense NDUFB7 2 66404 3.01187E-5 33202 0 NA
19-14677603-G-A p.His85His synonymous NDUFB7 1 67994 1.47072E-5 33997 0 2.56279E-4
19-14677607-C-T p.Arg84Gln missense NDUFB7 4 68836 5.81091E-5 34418 0 3.20492E-5
19-14677608-G-A p.Arg84Trp missense NDUFB7 8 69362 1.15337E-4 34681 0 6.25E-4
19-14677618-G-A p.Cys80Cys synonymous NDUFB7 2 72038 2.77631E-5 36019 0 3.88521E-5
19-14677620-A-G p.Cys80Arg missense NDUFB7 1 72602 1.37737E-5 36301 0 NA
19-14677621-G-A p.Ala79Ala synonymous NDUFB7 1 72790 1.37382E-5 36395 0 6.39468E-5
19-14677625-AG-A p.Leu78fs frameshift NDUFB7 2 73580 2.71813E-5 36790 0 6.40631E-6
19-14677626-G-C p.Leu78Val missense NDUFB7 1 73786 1.35527E-5 36893 0 6.39509E-5
19-14677634-G-A p.Pro75Leu missense NDUFB7 1 74854 1.33593E-5 37427 0 9.49307E-5
19-14677646-C-T p.Arg71His missense NDUFB7 2 75982 2.6322E-5 37991 0 6.00276E-6
19-14677647-G-A p.Arg71Cys missense NDUFB7 11 76086 1.44573E-4 38043 0 3.17201E-4
19-14677654-C-T p.Val68Met missense NDUFB7 1 76500 1.30719E-5 38250 0 0.00144105
19-14677657-G-T p.Gln67Lys missense NDUFB7 7 76566 9.14244E-5 38283 0 3.19836E-5
19-14677660-C-T p.Ala66Thr missense NDUFB7 1 76616 1.30521E-5 38308 0 NA
19-14677664-C-T p.Arg65Gln missense NDUFB7 1 76732 1.30324E-5 38366 0 1.10641E-5
19-14677665-G-A p.Arg65Trp missense NDUFB7 2 76886 2.60125E-5 38443 0 4.07997E-5
19-14677665-G-C p.Arg65Gly missense NDUFB7 2 76888 2.60119E-5 38444 0 NA
19-14677671-G-C p.Leu63Val missense NDUFB7 8 76998 1.03899E-4 38499 0 0.00136676
19-14677674-G-A p.His62Tyr missense NDUFB7 6 77004 7.7918E-5 38502 0 3.51775E-4
19-14677674-G-C p.His62Asp missense NDUFB7 2 77004 2.59727E-5 38502 0 1.27918E-4
19-14677680-C-T p.Ala60Thr missense NDUFB7 6 76964 7.79585E-5 38482 0 8.98093E-5
19-14677684-G-T p.Tyr58* stop_gained NDUFB7 1 77106 1.29692E-5 38553 0 5.17555E-6
19-14677685-T-C p.Tyr58Cys missense NDUFB7 1 77064 1.29762E-5 38532 0 NA
19-14677688-T-C p.Asp57Gly missense NDUFB7 2 77054 2.59558E-5 38527 0 NA
19-14677691-C-T p.Arg56Gln missense NDUFB7 5 77060 6.48845E-5 38530 0 1.6629E-4
19-14677699-G-C p.Pro53Ala missense NDUFB7 1 77046 1.29793E-5 38523 0 NA
19-14677703-C-G p.Arg52Thr missense NDUFB7 1 77016 1.29843E-5 38508 0 4.92223E-6
19-14677705-C-T p.Glu51Lys missense NDUFB7 1 77010 1.29853E-5 38505 0 3.20328E-5
19-14677711-C-T p.Ala49Thr missense NDUFB7 111 76806 0.0014452 38403 0 0.00232919
19-14677712-G-A p.Ala49Val missense NDUFB7 3 76832 3.90462E-5 38416 0 2.8422E-5
19-14677714-G-A p.Arg48Cys missense NDUFB7 84 76836 0.00109324 38418 0 0.00153503
19-14677722-TCTC-T p.Gly44del disruptive_inframe_deletion NDUFB7 1 76806 1.30198E-5 38403 0 1.08501E-4
19-14677732-T-C p.Thr42Ala missense NDUFB7 375 76582 0.00489671 38291 3 0.010105
19-14677751-GG-AT c.113-7_113-6delCCinsAT splice_region NDUFB7 1 76022 1.31541E-5 38011 0 NA
19-14682697-T-C c.112+4A>G splice_region NDUFB7 1 70672 1.41499E-5 35336 0 6.29683E-5
19-14682704-GC-G p.Glu36fs frameshift NDUFB7 3 71330 4.2058E-5 35665 0 1.70365E-5
19-14682720-G-T p.Phe31Leu missense NDUFB7 1 72528 1.37878E-5 36264 0 4.15984E-6
19-14682721-A-C p.Phe31Cys missense NDUFB7 10 72534 1.37866E-4 36267 0 1.59368E-4
19-14682723-G-T p.Gly30Gly synonymous NDUFB7 1 72790 1.37382E-5 36395 0 3.18431E-5
19-14682723-G-A p.Gly30Gly synonymous NDUFB7 2 72792 2.74755E-5 36396 0 6.36862E-5
19-14682725-C-A p.Gly30Cys missense NDUFB7 8 72932 1.09691E-4 36466 0 6.82556E-4
19-14682726-G-A p.Tyr29Tyr synonymous NDUFB7 2 73122 2.73515E-5 36561 0 1.33363E-4
19-14682733-G-A p.Pro27Leu missense NDUFB7 1 73390 1.36258E-5 36695 0 1.08103E-5
19-14682738-G-A p.Phe25Phe synonymous NDUFB7 1 73572 1.35921E-5 36786 0 4.12079E-6
19-14682751-T-G p.Gln21Pro missense NDUFB7 1 73864 1.35384E-5 36932 0 NA
19-14682753-C-T p.Leu20Leu synonymous NDUFB7 1 73864 1.35384E-5 36932 0 NA
19-14682764-G-C p.Pro17Ala missense NDUFB7 1 73256 1.36508E-5 36628 0 3.18695E-5
19-14682767-C-A p.Glu16* stop_gained NDUFB7 7 73360 9.54198E-5 36680 0 6.37146E-5
19-14682770-C-T p.Val15Met missense NDUFB7 1 73334 1.36362E-5 36667 0 NA
19-14682771-C-T p.Ser14Ser synonymous NDUFB7 1 73252 1.36515E-5 36626 0 NA
19-14682785-G-A p.Leu10Leu synonymous NDUFB7 79 73212 0.00107906 36606 1 0.00210285
19-14682800-G-C p.Leu5Val missense NDUFB7 1 72410 1.38102E-5 36205 0 2.40125E-5
19-14682802-T-G p.His4Pro missense NDUFB7 1 72224 1.38458E-5 36112 0 NA
19-14682804-G-C p.Ala3Ala synonymous NDUFB7 36847 69100 0.533242 34550 10244 0.579471
19-14682806-C-T p.Ala3Thr missense NDUFB7 1 71872 1.39136E-5 35936 0 1.39864E-5
19-14682842-G-A c.-30C>T 5_prime_UTR_premature_start_codon_gain NDUFB7 4 68620 5.8292E-5 34310 0 3.52634E-5
19-14682874-C-T c.-62G>A 5_prime_UTR_premature_start_codon_gain NDUFB7 1 60922 1.64144E-5 30461 0 NA



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