ClinVar Miner

List of variants in gene GJB1 reported as uncertain significance for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 337
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HGVS dbSNP
NM_000166.6(GJB1):c.-16-3C>G
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110del (p.Val37fs)
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
NM_000166.6(GJB1):c.115del (p.Ala39fs)
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.116del (p.Ala39fs)
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.155del (p.Ile52fs)
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
NM_000166.6(GJB1):c.217del (p.His73fs)
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.308dup (p.Lys104fs)
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
NM_000166.6(GJB1):c.313del (p.Met105fs)
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.332_349del (p.His111_His116del)
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
NM_000166.6(GJB1):c.358_360del (p.Val120del)
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
NM_000166.6(GJB1):c.371del (p.Lys124fs)
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
NM_000166.6(GJB1):c.397del (p.Trp133fs)
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
NM_000166.6(GJB1):c.410del (p.Ile137fs)
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.424del (p.Arg142fs)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
NM_000166.6(GJB1):c.439del (p.Ala147fs)
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.43del (p.Arg15fs)
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
NM_000166.6(GJB1):c.454del (p.Val152fs)
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
NM_000166.6(GJB1):c.474del (p.Gly159fs)
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
NM_000166.6(GJB1):c.484dup (p.Met162fs)
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.530T>A (p.Val177Glu)
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs)
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
NM_000166.6(GJB1):c.606del (p.Ile203fs)
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
NM_000166.6(GJB1):c.62del (p.Gly21fs)
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
NM_000166.6(GJB1):c.634del (p.Leu212fs)
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs)
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
NM_000166.6(GJB1):c.84del (p.Phe29fs)
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)

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