ClinVar Miner

List of variants in gene GJB2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 413
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_004004.6(GJB2):c.-22-332C>A rs7318163 0.89461
NC_000013.11:g.20193244A>G rs9550621 0.82112
NC_000013.11:g.20193129T>C rs9552101 0.78805
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_004004.6(GJB2):c.-23+792C>T rs7994748 0.60436
NC_000013.11:g.20193170A>G rs117685390 0.16325
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004004.6(GJB2):c.-23+253C>T rs7332397 0.00395
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004004.6(GJB2):c.225G>T (p.Arg75=) rs149137695 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004004.6(GJB2):c.177C>T (p.Gly59=) rs375122728 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964 0.00007
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.340G>A (p.Glu114Lys) rs201855069 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004004.6(GJB2):c.-22-18T>A rs778602324 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004004.6(GJB2):c.477C>T (p.Asp159=) rs935617755 0.00005
NM_004004.5(GJB2):c.-259C>T rs1417111166 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004004.6(GJB2):c.-7G>A rs398123813 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala) rs200023879 0.00003
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057 0.00003
NM_004004.6(GJB2):c.258G>A (p.Thr86=) rs139362103 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.647G>T (p.Arg216Ile) rs767233008 0.00003
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) rs111033296 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.299A>T (p.His100Leu) rs1422767764 0.00002
NM_004004.6(GJB2):c.407dup (p.Tyr136Ter) rs771409330 0.00002
NM_004004.6(GJB2):c.444C>T (p.Ala148=) rs757029266 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser) rs756467247 0.00001
NM_004004.6(GJB2):c.108C>G (p.Leu36=) rs138547875 0.00001
NM_004004.6(GJB2):c.122A>G (p.Lys41Arg) rs866127155 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.135A>T (p.Gly45=) rs777528049 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.15G>A (p.Thr5=) rs757226502 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.228A>G (p.Leu76=) rs1959060799 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.291C>T (p.Tyr97=) rs749070779 0.00001
NM_004004.6(GJB2):c.30G>C (p.Leu10=) rs1215210213 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257 0.00001
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.33G>T (p.Gly11=) rs753943758 0.00001
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.396G>A (p.Leu132=) rs755058488 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp) rs1476034902 0.00001
NM_004004.6(GJB2):c.435C>T (p.Ile145=) rs1210470150 0.00001
NM_004004.6(GJB2):c.438C>T (p.Phe146=) rs750795475 0.00001
NM_004004.6(GJB2):c.453G>A (p.Met151Ile) rs765115961 0.00001
NM_004004.6(GJB2):c.456C>T (p.Tyr152=) rs111033420 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu) rs757699303 0.00001
NM_004004.6(GJB2):c.500T>C (p.Val167Ala) rs201983374 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.597T>A (p.Ser199=) rs984555255 0.00001
NM_004004.6(GJB2):c.597T>C (p.Ser199=) rs984555255 0.00001
NM_004004.6(GJB2):c.606C>T (p.Cys202=) rs1176381370 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348 0.00001
NM_004004.6(GJB2):c.672G>A (p.Lys224=) rs757510867 0.00001
NC_000013.11:g.20193112C>G rs531356872
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.-112A>C rs1555342240
NM_004004.6(GJB2):c.-14G>A
NM_004004.6(GJB2):c.-165del
NM_004004.6(GJB2):c.-169C>G
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-173G>C rs1016014284
NM_004004.6(GJB2):c.-22-12C>G rs9578260
NM_004004.6(GJB2):c.-23+24_-23+32del
NM_004004.6(GJB2):c.-47C>G rs1555342239
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875
NM_004004.6(GJB2):c.109G>T (p.Val37Phe) rs72474224
NM_004004.6(GJB2):c.114G>A (p.Val38=)
NM_004004.6(GJB2):c.118G>A (p.Ala40Thr)
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.120A>G (p.Ala40=)
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.136G>C (p.Asp46His) rs1064797088
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
NM_004004.6(GJB2):c.145del (p.Ala49fs)
NM_004004.6(GJB2):c.147C>T (p.Ala49=)
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
NM_004004.6(GJB2):c.159C>T (p.Cys53=)
NM_004004.6(GJB2):c.15G>C (p.Thr5=) rs757226502
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.162C>T (p.Asn54=) rs104894412
NM_004004.6(GJB2):c.166C>T (p.Leu56=) rs1009769315
NM_004004.6(GJB2):c.168G>A (p.Leu56=)
NM_004004.6(GJB2):c.168G>T (p.Leu56=)
NM_004004.6(GJB2):c.171G>A (p.Gln57=) rs1064797175
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.176G>T (p.Gly59Val) rs104894404
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.178T>G (p.Cys60Gly)
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.187G>C (p.Val63Leu)
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.189G>T (p.Val63=) rs1959061331
NM_004004.6(GJB2):c.195C>A (p.Tyr65Ter)
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.200dup (p.His67fs) rs2137308372
NM_004004.6(GJB2):c.206T>C (p.Phe69Ser)
NM_004004.6(GJB2):c.207C>G (p.Phe69Leu)
NM_004004.6(GJB2):c.207C>T (p.Phe69=)
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
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>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) rs1959060696
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.233C>A (p.Ala78Asp) rs1481417187
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.237G>C (p.Leu79=)
NM_004004.6(GJB2):c.238C>A (p.Gln80Lys) rs199883710
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.241C>T (p.Leu81=)
NM_004004.6(GJB2):c.243G>A (p.Leu81=)
NM_004004.6(GJB2):c.249C>T (p.Phe83=) rs111033218
NM_004004.6(GJB2):c.24G>C (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.251T>C (p.Val84Ala)
NM_004004.6(GJB2):c.252G>A (p.Val84=)
NM_004004.6(GJB2):c.255C>T (p.Ser85=)
NM_004004.6(GJB2):c.256A>G (p.Thr86Ala)
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.258G>T (p.Thr86=) rs139362103
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.263C>A (p.Ala88Glu)
NM_004004.6(GJB2):c.263C>T (p.Ala88Val) rs1555341945
NM_004004.6(GJB2):c.264G>A (p.Ala88=) rs754237172
NM_004004.6(GJB2):c.264G>C (p.Ala88=)
NM_004004.6(GJB2):c.266T>C (p.Leu89Pro) rs1959060148
NM_004004.6(GJB2):c.267C>A (p.Leu89=)
NM_004004.6(GJB2):c.268C>T (p.Leu90=) rs1959060111
NM_004004.6(GJB2):c.268del (p.Leu89_Leu90insTer) rs2137308116
NM_004004.6(GJB2):c.275C>T (p.Ala92Val) rs1959060006
NM_004004.6(GJB2):c.276C>T (p.Ala92=) rs1593351392
NM_004004.6(GJB2):c.277A>C (p.Met93Leu)
NM_004004.6(GJB2):c.277A>G (p.Met93Val)
NM_004004.6(GJB2):c.27C>A (p.Ile9=) rs1286249617
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.282C>T (p.His94=) rs766998544
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.288C>T (p.Ala96=)
NM_004004.6(GJB2):c.28del (p.Leu10fs) rs1441862662
NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.303G>A (p.Glu101=)
NM_004004.6(GJB2):c.308A>G (p.Lys103Arg) rs915521910
NM_004004.6(GJB2):c.308A>T (p.Lys103Met)
NM_004004.6(GJB2):c.310A>C (p.Arg104=)
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.318C>T (p.Phe106=)
NM_004004.6(GJB2):c.321C>T (p.Ile107=) rs1057502788
NM_004004.6(GJB2):c.324G>A (p.Lys108=) rs1959059239
NM_004004.6(GJB2):c.327G>A (p.Gly109=)
NM_004004.6(GJB2):c.328del (p.Glu110fs)
NM_004004.6(GJB2):c.330G>A (p.Glu110=)
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.342A>G (p.Glu114=)
NM_004004.6(GJB2):c.345dup (p.Lys116Ter)
NM_004004.6(GJB2):c.351C>T (p.Asp117=)
NM_004004.6(GJB2):c.353_356dup (p.Glu119fs)
NM_004004.6(GJB2):c.354C>T (p.Ile118=) rs1260220204
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
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.363C>A (p.Ile121=) rs1234807594
NM_004004.6(GJB2):c.36T>G (p.Gly12=) rs2137308870
NM_004004.6(GJB2):c.371A>C (p.Gln124Pro)
NM_004004.6(GJB2):c.378C>A (p.Val126=) rs2137307737
NM_004004.6(GJB2):c.379C>G (p.Arg127Gly) rs727503066
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.382A>G (p.Ile128Val) rs1959058329
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.387A>G (p.Glu129=) rs2137307697
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.393C>G (p.Ser131=)
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
NM_004004.6(GJB2):c.39G>A (p.Val13=) rs1415433002
NM_004004.6(GJB2):c.3G>A (p.Met1Ile)
NM_004004.6(GJB2):c.402del (p.Trp133_Trp134insTer) rs1195692356
NM_004004.6(GJB2):c.405C>T (p.Thr135=)
NM_004004.6(GJB2):c.410C>G (p.Thr137Arg) rs1959058054
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.419T>G (p.Ile140Ser)
NM_004004.6(GJB2):c.41A>G (p.Asn14Ser)
NM_004004.6(GJB2):c.41dup (p.Asn14fs) rs1165937383
NM_004004.6(GJB2):c.420C>T (p.Ile140=) rs1214625738
NM_004004.6(GJB2):c.421TTC[1] (p.Phe142del)
NM_004004.6(GJB2):c.423C>T (p.Phe141=)
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.429G>T (p.Arg143=) rs2137307608
NM_004004.6(GJB2):c.432C>A (p.Val144=)
NM_004004.6(GJB2):c.432C>T (p.Val144=)
NM_004004.6(GJB2):c.433_435del (p.Ile145del)
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly) rs1959057808
NM_004004.6(GJB2):c.441A>G (p.Glu147=)
NM_004004.6(GJB2):c.444C>G (p.Ala148=) rs757029266
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.447C>A (p.Ala149=) rs2137307569
NM_004004.6(GJB2):c.447C>T (p.Ala149=)
NM_004004.6(GJB2):c.453_460delinsAGAGAAGAC (p.Met151fs)
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.468C>T (p.Val156=) rs2137307508
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.488T>G (p.Met163Arg) rs1273330603
NM_004004.6(GJB2):c.48C>T (p.His16=)
NM_004004.6(GJB2):c.490C>T (p.Gln164Ter)
NM_004004.6(GJB2):c.504G>A (p.Lys168=) rs2137307395
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004004.6(GJB2):c.513C>G (p.Ala171=) rs2137307355
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter) rs1302739538
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser) rs1959056736
NM_004004.6(GJB2):c.518C>G (p.Pro173Arg)
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu) rs1555341843
NM_004004.6(GJB2):c.51C>A (p.Ser17=) rs1959063254
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.522T>C (p.Cys174=) rs2137307325
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.528C>A (p.Asn176Lys)
NM_004004.6(GJB2):c.531T>C (p.Thr177=)
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.534G>C (p.Val178=)
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.537C>T (p.Asp179=)
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.53_63del (p.Thr18fs) rs2137308791
NM_004004.6(GJB2):c.546G>T (p.Val182=)
NM_004004.6(GJB2):c.548C>T (p.Ser183Phe)
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.552G>A (p.Arg184=) rs2137307254
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.561G>A (p.Glu187=)
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.567T>C (p.Thr189=)
NM_004004.6(GJB2):c.568_571del (p.Val190fs)
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.56G>T (p.Ser19Ile)
NM_004004.6(GJB2):c.570C>T (p.Val190=)
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.576A>C (p.Thr192=)
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>T (p.Met195Leu)
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>T (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.588T>C (p.Ile196=)
NM_004004.6(GJB2):c.592G>A (p.Val198Met) rs2137307128
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.594G>A (p.Val198=)
NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)
NM_004004.6(GJB2):c.595T>G (p.Ser199Ala)
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.600A>C (p.Gly200=) rs2137307091
NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)
NM_004004.6(GJB2):c.609C>T (p.Ile203=) rs1959055396
NM_004004.6(GJB2):c.612G>T (p.Leu204=)
NM_004004.6(GJB2):c.621C>T (p.Val207=) rs1959055309
NM_004004.6(GJB2):c.624del (p.Glu209fs) rs2137307021
NM_004004.6(GJB2):c.630_634del (p.Cys211fs)
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)
NM_004004.6(GJB2):c.645T>C (p.Ile215=) rs750216973
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.66G>A (p.Lys22=) rs879253741
NM_004004.6(GJB2):c.680A>G (p.Ter227=)
NM_004004.6(GJB2):c.6T>C (p.Asp2=) rs1463179125
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.76del (p.Thr26fs) rs2137308765
NM_004004.6(GJB2):c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) rs398123815
NM_004004.6(GJB2):c.82C>G (p.Leu28Val)
NM_004004.6(GJB2):c.82_84del (p.Leu28del)
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004004.6(GJB2):c.88A>T (p.Ile30Phe)
NM_004004.6(GJB2):c.89T>C (p.Ile30Thr)
NM_004004.6(GJB2):c.8G>C (p.Trp3Ser)
NM_004004.6(GJB2):c.93del (p.Arg32fs)
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) 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.98T>C (p.Ile33Thr)
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401

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