ClinVar Miner

List of variants in gene GJB2

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Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP
NC_000013.11:g.20192983G>C
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.5(GJB2):c.-259C>T rs1417111166
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*1040A>G
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*115A>C
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*236A>T
NM_004004.6(GJB2):c.*308G>A
NM_004004.6(GJB2):c.*385G>C
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*4A>G
NM_004004.6(GJB2):c.*52C>T
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*550A>G
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*679T>C
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-112A>C rs1555342240
NM_004004.6(GJB2):c.-127G>C rs727503068
NM_004004.6(GJB2):c.-12C>T
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-16C>T
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-173G>C
NM_004004.6(GJB2):c.-174C>G rs541058463
NM_004004.6(GJB2):c.-1G>A
NM_004004.6(GJB2):c.-22-12C>G rs9578260
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-18T>A rs778602324
NM_004004.6(GJB2):c.-22-1G>A rs551625098
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-22-35G>T rs191461105
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-22-7T>C
NM_004004.6(GJB2):c.-23+12G>A rs397516866
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.-263C>G
NM_004004.6(GJB2):c.-30C>T rs397516867
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-47C>G rs1555342239
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.6(GJB2):c.111_113del (p.Val38del)
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.122_124AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.128_129TG[1] (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.137_141del (p.Asp46fs)
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903
NM_004004.6(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.171G>A (p.Gln57=) rs1064797175
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) rs104894404
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.177C>T (p.Gly59=) rs375122728
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys) rs397516870
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) rs1593351503
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) rs104894402
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.226C>G (p.Leu76Val) rs1566528748
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe) rs765921870
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
NM_004004.6(GJB2):c.276C>T (p.Ala92=) rs1593351392
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) rs886037625
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.282C>T (p.His94=)
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.312G>A (p.Arg104=) rs267603770
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) rs797045596
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu)
NM_004004.6(GJB2):c.326G>T (p.Gly109Val)
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) rs1555341931
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Phe115_Lys116insTer) rs1555341926
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly) rs111033441
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.38T>G (p.Val13Gly) rs1593351795
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.401_403del (p.Trp134_Thr135delinsSer) rs1555341910
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) rs397516877
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.435C>T (p.Ile145=)
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) rs1555341874
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.456C>T (p.Tyr152=) rs111033420
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) rs28929485
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu) rs1555341843
NM_004004.6(GJB2):c.51C>T (p.Ser17=)
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.546G>A (p.Val182=)
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409
NM_004004.6(GJB2):c.569T>A (p.Val190Asp)
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.573_574CA[1] (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.582C>T (p.Phe194=) rs794727271
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.646A>C (p.Arg216=) rs1446334784
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr) rs752812448
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740
NM_004004.6(GJB2):c.677T>A (p.Val226Asp) rs773846324
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe) rs1555342006
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle) rs398123815
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
Single allele

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