ClinVar Miner

List of variants in gene GJB1 studied for Charcot-Marie-Tooth Neuropathy X

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 452
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000166.6(GJB1):c.36C>T (p.Gly12=) rs756086307 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000166.6(GJB1):c.442G>A (p.Val148Ile) rs775956201 0.00007
NM_000166.6(GJB1):c.540C>T (p.Phe180=) rs771022595 0.00007
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000166.6(GJB1):c.504C>T (p.Cys168=) rs757808220 0.00005
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406 0.00005
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706 0.00004
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402 0.00003
NM_000166.6(GJB1):c.414C>T (p.Ser138=) rs1317916250 0.00003
NM_000166.6(GJB1):c.438G>A (p.Glu146=) rs776798195 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000166.6(GJB1):c.574G>A (p.Val192Ile) rs771579861 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.768T>C (p.Asp256=) rs1248389821 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000166.6(GJB1):c.849C>T (p.Cys283=) rs748676943 0.00003
NM_000166.6(GJB1):c.354G>A (p.Glu118=) rs1174424501 0.00002
NM_000166.6(GJB1):c.505G>A (p.Asp169Asn) rs754963933 0.00002
NM_000166.6(GJB1):c.522C>T (p.Pro174=) rs1271866184 0.00002
NM_000166.6(GJB1):c.564C>T (p.Thr188=) rs746270194 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_000166.6(GJB1):c.713G>A (p.Arg238His) rs776206757 0.00002
NM_000166.6(GJB1):c.811G>A (p.Ala271Thr) rs756258267 0.00002
NM_000166.6(GJB1):c.843G>A (p.Ser281=) rs779327968 0.00002
NM_000166.6(GJB1):c.108G>C (p.Leu36=) rs149350998 0.00001
NM_000166.6(GJB1):c.120A>G (p.Ala40=) rs1481496306 0.00001
NM_000166.6(GJB1):c.126T>C (p.Ser42=) rs1184846357 0.00001
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139 0.00001
NM_000166.6(GJB1):c.165A>G (p.Thr55=) rs1173034334 0.00001
NM_000166.6(GJB1):c.183C>T (p.Asn61=) rs1364055284 0.00001
NM_000166.6(GJB1):c.21C>T (p.Tyr7=) rs2092541958 0.00001
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837 0.00001
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe) rs1299325261 0.00001
NM_000166.6(GJB1):c.282C>T (p.His94=) rs756000896 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln) rs1383588318 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810 0.00001
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000166.6(GJB1):c.501G>A (p.Lys167=) rs766201464 0.00001
NM_000166.6(GJB1):c.510C>G (p.Val170=) rs758610223 0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000166.6(GJB1):c.527C>T (p.Thr176Ile) rs1273640670 0.00001
NM_000166.6(GJB1):c.546C>T (p.Ser182=) rs781639935 0.00001
NM_000166.6(GJB1):c.606C>T (p.Ile202=) rs1323117815 0.00001
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys) rs144381053 0.00001
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862 0.00001
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412 0.00001
NM_000166.6(GJB1):c.682C>T (p.Pro228Ser) rs1408060576 0.00001
NM_000166.6(GJB1):c.69A>G (p.Val23=) rs780076535 0.00001
NM_000166.6(GJB1):c.705C>T (p.Phe235=) rs760150310 0.00001
NM_000166.6(GJB1):c.732G>A (p.Lys244=) rs1198937821 0.00001
NM_000166.6(GJB1):c.757A>G (p.Ser253Gly) rs1233208182 0.00001
NM_000166.6(GJB1):c.758G>A (p.Ser253Asn) rs994060118 0.00001
NM_000166.6(GJB1):c.766G>A (p.Asp256Asn) rs1474185231 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys) rs1324941945 0.00001
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543 0.00001
NM_000166.6(GJB1):c.808G>A (p.Gly270Arg) rs1244231648 0.00001
NM_000166.6(GJB1):c.832G>A (p.Asp278Asn) rs1192074631 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NC_000023.10:g.(?_70443558)_(70444409_?)del
NC_000023.11:g.(?_71223168)_(71224569_?)del
NC_000023.11:g.(?_71223168)_(71224579_?)del
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-16-1G>A
NM_000166.6(GJB1):c.-16-35_264del
NM_000166.6(GJB1):c.-16-8_-12del rs2147944724
NM_000166.6(GJB1):c.-17+2T>G
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.102G>A (p.Met34Ile) rs1060501000
NM_000166.6(GJB1):c.103G>A (p.Val35Met) rs1602348735
NM_000166.6(GJB1):c.106C>G (p.Leu36Val) rs2092542516
NM_000166.6(GJB1):c.108G>T (p.Leu36=) rs149350998
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110T>A (p.Val37Glu)
NM_000166.6(GJB1):c.111_112dup (p.Val38fs) rs2092542575
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala) rs863224612
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.115G>A (p.Ala39Thr)
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) rs1602348782
NM_000166.6(GJB1):c.119C>T (p.Ala40Val) rs1602348786
NM_000166.6(GJB1):c.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla) rs1569215082
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys) rs1602348796
NM_000166.6(GJB1):c.124A>G (p.Ser42Gly)
NM_000166.6(GJB1):c.124_125del (p.Ser42fs) rs1602348794
NM_000166.6(GJB1):c.127G>C (p.Val43Leu) rs1602348804
NM_000166.6(GJB1):c.128T>A (p.Val43Glu) rs1555937059
NM_000166.6(GJB1):c.129G>A (p.Val43=) rs2147945183
NM_000166.6(GJB1):c.131G>A (p.Trp44Ter)
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) rs879253935
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.133G>C (p.Gly45Arg)
NM_000166.6(GJB1):c.134dup (p.Gly45_Asp46insTer)
NM_000166.6(GJB1):c.135T>G (p.Gly45=) rs1602348813
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
NM_000166.6(GJB1):c.137A>T (p.Asp46Val) rs1602348820
NM_000166.6(GJB1):c.138T>G (p.Asp46Glu) rs1419095893
NM_000166.6(GJB1):c.140A>T (p.Glu47Val) rs1602348828
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.148T>G (p.Ser50Ala)
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys) rs2092542910
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.153C>A (p.Phe51Leu) rs2147945283
NM_000166.6(GJB1):c.157del (p.Cys53fs)
NM_000166.6(GJB1):c.158G>T (p.Cys53Phe)
NM_000166.6(GJB1):c.162C>T (p.Asn54=) rs2147945331
NM_000166.6(GJB1):c.163A>C (p.Thr55Pro) rs863224613
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup) rs1555937071
NM_000166.6(GJB1):c.165_166insGAT (p.Thr55_Leu56insAsp) rs2147945352
NM_000166.6(GJB1):c.166C>G (p.Leu56Val) rs1602348872
NM_000166.6(GJB1):c.171G>A (p.Gln57=) rs1602348875
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.17T>C (p.Leu6Ser) rs2092541936
NM_000166.6(GJB1):c.183C>G (p.Asn61Lys)
NM_000166.6(GJB1):c.183dup (p.Ser62fs) rs1555937084
NM_000166.6(GJB1):c.184A>C (p.Ser62Arg)
NM_000166.6(GJB1):c.185G>C (p.Ser62Thr)
NM_000166.6(GJB1):c.186C>A (p.Ser62Arg)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) rs1602348897
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser) rs1602348897
NM_000166.6(GJB1):c.192C>A (p.Cys64Ter)
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp) rs2147945443
NM_000166.6(GJB1):c.194A>C (p.Tyr65Ser) rs104894819
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) rs1602348907
NM_000166.6(GJB1):c.196G>T (p.Asp66Tyr) rs1602348911
NM_000166.6(GJB1):c.197A>G (p.Asp66Gly)
NM_000166.6(GJB1):c.198C>G (p.Asp66Glu)
NM_000166.6(GJB1):c.198C>T (p.Asp66=)
NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) rs2092543211
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.201A>G (p.Gln67=)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) rs1602348917
NM_000166.6(GJB1):c.206T>G (p.Phe69Cys)
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.211A>G (p.Ile71Val) rs2092543276
NM_000166.6(GJB1):c.212T>A (p.Ile71Asn) rs1602348932
NM_000166.6(GJB1):c.212T>C (p.Ile71Thr)
NM_000166.6(GJB1):c.215C>G (p.Ser72Cys) rs2092543301
NM_000166.6(GJB1):c.215C>T (p.Ser72Phe) rs2092543301
NM_000166.6(GJB1):c.216C>G (p.Ser72=)
NM_000166.6(GJB1):c.216C>T (p.Ser72=)
NM_000166.6(GJB1):c.218A>G (p.His73Arg) rs748384293
NM_000166.6(GJB1):c.220G>C (p.Val74Leu) rs772377652
NM_000166.6(GJB1):c.221T>C (p.Val74Ala) rs2092543367
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.227dup (p.Trp77fs)
NM_000166.6(GJB1):c.228G>A (p.Leu76=)
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser) rs199570177
NM_000166.6(GJB1):c.230G>T (p.Trp77Leu) rs199570177
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.231G>T (p.Trp77Cys)
NM_000166.6(GJB1):c.232T>G (p.Ser78Ala) rs1569215156
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) rs1602348981
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.240G>T (p.Gln80His)
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.242T>A (p.Leu81His) rs1555937111
NM_000166.6(GJB1):c.244A>C (p.Ile82Leu)
NM_000166.6(GJB1):c.245T>A (p.Ile82Asn) rs2147945641
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg) rs1602349004
NM_000166.6(GJB1):c.250del (p.Val84fs) rs2147945660
NM_000166.6(GJB1):c.251T>G (p.Val84Gly) rs1602349008
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) rs1602349017
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.263C>G (p.Ala88Gly) rs2092543662
NM_000166.6(GJB1):c.264_280del (p.Leu89fs) rs2147945690
NM_000166.6(GJB1):c.265C>G (p.Leu89Val) rs1602349029
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.269T>C (p.Leu90Pro) rs1602349045
NM_000166.6(GJB1):c.269T>G (p.Leu90Arg)
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser) rs1569214971
NM_000166.6(GJB1):c.270C>G (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.270C>T (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.277A>G (p.Met93Val) rs1602349066
NM_000166.6(GJB1):c.280C>T (p.His94Tyr) rs1602349087
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) rs1602349112
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly) rs11551260
NM_000166.6(GJB1):c.290A>G (p.His97Arg) rs2147945782
NM_000166.6(GJB1):c.294G>A (p.Gln98=) rs2147945792
NM_000166.6(GJB1):c.297_299dup (p.Gln99dup) rs1569215197
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) rs1602349131
NM_000166.6(GJB1):c.299A>T (p.His100Leu) rs1602349133
NM_000166.6(GJB1):c.2T>A (p.Met1Lys) rs1602348519
NM_000166.6(GJB1):c.2T>C (p.Met1Thr) rs1602348519
NM_000166.6(GJB1):c.300C>G (p.His100Gln) rs1602349137
NM_000166.6(GJB1):c.300C>T (p.His100=)
NM_000166.6(GJB1):c.301A>C (p.Ile101Leu)
NM_000166.6(GJB1):c.302T>C (p.Ile101Thr)
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.309G>A (p.Lys103=)
NM_000166.6(GJB1):c.30C>A (p.Leu10=)
NM_000166.6(GJB1):c.30C>G (p.Leu10=)
NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)
NM_000166.6(GJB1):c.311A>T (p.Lys104Ile) rs1602349166
NM_000166.6(GJB1):c.316C>G (p.Leu106Val)
NM_000166.6(GJB1):c.316_320del (p.Leu106fs) rs2147945853
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro) rs1602349183
NM_000166.6(GJB1):c.327G>A (p.Glu109=)
NM_000166.6(GJB1):c.329G>T (p.Gly110Val)
NM_000166.6(GJB1):c.33T>C (p.Ser11=) rs2147944838
NM_000166.6(GJB1):c.340C>A (p.Pro114Thr) rs748187922
NM_000166.6(GJB1):c.343dup (p.Leu115fs) rs1555937150
NM_000166.6(GJB1):c.344T>C (p.Leu115Pro) rs2092544190
NM_000166.6(GJB1):c.345A>G (p.Leu115=) rs2092544200
NM_000166.6(GJB1):c.345dup (p.His116fs)
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.359T>A (p.Val120Glu) rs1049663989
NM_000166.6(GJB1):c.35G>A (p.Gly12Asp) rs1569214985
NM_000166.6(GJB1):c.360G>A (p.Val120=) rs747185844
NM_000166.6(GJB1):c.363G>A (p.Lys121=) rs1341256650
NM_000166.6(GJB1):c.364A>C (p.Arg122=)
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del) rs1555937156
NM_000166.6(GJB1):c.369C>A (p.His123Gln)
NM_000166.6(GJB1):c.36C>A (p.Gly12=) rs756086307
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000166.6(GJB1):c.371_377delinsTCTTCACCT (p.Lys124fs)
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.372G>T (p.Lys124Asn)
NM_000166.6(GJB1):c.374T>G (p.Val125Gly) rs1602349254
NM_000166.6(GJB1):c.375C>T (p.Val125=) rs2092544353
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.378C>T (p.His126=) rs2147945987
NM_000166.6(GJB1):c.384A>G (p.Ser128=)
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.388A>G (p.Thr130Ala)
NM_000166.6(GJB1):c.38T>G (p.Val13Gly) rs1220424626
NM_000166.6(GJB1):c.391C>G (p.Leu131Val) rs2147946023
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) rs1555937166
NM_000166.6(GJB1):c.393G>A (p.Leu131=) rs2092544471
NM_000166.6(GJB1):c.394T>G (p.Trp132Gly) rs1569215263
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.396del (p.Trp132fs) rs879253946
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys) rs1602349302
NM_000166.6(GJB1):c.3G>C (p.Met1Ile)
NM_000166.6(GJB1):c.402C>G (p.Thr134=)
NM_000166.6(GJB1):c.405T>C (p.Tyr135=)
NM_000166.6(GJB1):c.409A>G (p.Ile137Val)
NM_000166.6(GJB1):c.412A>G (p.Ser138Gly)
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) rs1602349322
NM_000166.6(GJB1):c.413G>C (p.Ser138Thr)
NM_000166.6(GJB1):c.416T>G (p.Val139Gly) rs2147946105
NM_000166.6(GJB1):c.41A>T (p.Asn14Ile) rs1569214995
NM_000166.6(GJB1):c.420G>A (p.Val140=) rs2147946113
NM_000166.6(GJB1):c.423C>T (p.Phe141=)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>G (p.Leu143Arg)
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys) rs1262031967
NM_000166.6(GJB1):c.430T>C (p.Leu144=)
NM_000166.6(GJB1):c.434T>G (p.Phe145Cys) rs1602349341
NM_000166.6(GJB1):c.435del (p.Phe145fs)
NM_000166.6(GJB1):c.436G>C (p.Glu146Gln) rs1602349346
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.443_446delinsGAACAC (p.Val148fs) rs2092544789
NM_000166.6(GJB1):c.447C>A (p.Phe149Leu) rs2147946194
NM_000166.6(GJB1):c.449T>G (p.Met150Arg) rs761350704
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.450del (p.Met150fs)
NM_000166.6(GJB1):c.454G>A (p.Val152Ile)
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)
NM_000166.6(GJB1):c.461A>G (p.Tyr154Cys) rs1555937189
NM_000166.6(GJB1):c.461_464dup (p.Leu156fs) rs2147946234
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter) rs879254098
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) rs1602349430
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser) rs1602349430
NM_000166.6(GJB1):c.473C>T (p.Pro158Leu) rs1602349439
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) rs1602349446
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.480T>C (p.Tyr160=)
NM_000166.6(GJB1):c.483C>T (p.Ala161=) rs1602349458
NM_000166.6(GJB1):c.484del (p.Met162fs) rs2147946319
NM_000166.6(GJB1):c.489G>A (p.Val163=)
NM_000166.6(GJB1):c.491G>T (p.Arg164Leu) rs1241595912
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) rs766201464
NM_000166.6(GJB1):c.504C>A (p.Cys168Ter) rs757808220
NM_000166.6(GJB1):c.507del (p.Asp169fs)
NM_000166.6(GJB1):c.508G>T (p.Val170Phe) rs748095370
NM_000166.6(GJB1):c.509T>G (p.Val170Gly) rs1602349512
NM_000166.6(GJB1):c.512A>G (p.Tyr171Cys)
NM_000166.6(GJB1):c.513C>G (p.Tyr171Ter) rs2092545247
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.519C>A (p.Cys173Ter) rs2092545291
NM_000166.6(GJB1):c.519C>T (p.Cys173=) rs2092545291
NM_000166.6(GJB1):c.521C>G (p.Pro174Arg) rs1602349540
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser) rs1602349555
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.526A>C (p.Thr176Pro)
NM_000166.6(GJB1):c.526A>G (p.Thr176Ala)
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) rs1555937012
NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)
NM_000166.6(GJB1):c.52_54del (p.Thr18del) rs2092542190
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
NM_000166.6(GJB1):c.533A>C (p.Asp178Ala) rs1555937224
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg) rs1602349591
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.53C>G (p.Thr18Ser) rs1555937015
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>T (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.6(GJB1):c.542T>C (p.Val181Ala) rs876661252
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.54T>C (p.Thr18=)
NM_000166.6(GJB1):c.554C>T (p.Thr185Ile)
NM_000166.6(GJB1):c.555C>T (p.Thr185=) rs1342096912
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.562dup (p.Thr188fs)
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.564C>G (p.Thr188=)
NM_000166.6(GJB1):c.566T>C (p.Val189Ala)
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.569_571dup (p.Phe190_Thr191insIle) rs1569215404
NM_000166.6(GJB1):c.56C>A (p.Ala19Asp)
NM_000166.6(GJB1):c.572C>A (p.Thr191Asn)
NM_000166.6(GJB1):c.573C>T (p.Thr191=) rs776040132
NM_000166.6(GJB1):c.579C>T (p.Phe193=)
NM_000166.6(GJB1):c.580A>C (p.Met194Leu)
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.584T>A (p.Leu195Gln) rs1569215413
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_000166.6(GJB1):c.58A>G (p.Ile20Val) rs1555937019
NM_000166.6(GJB1):c.591C>T (p.Ala197=)
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro) rs1555937259
NM_000166.6(GJB1):c.593C>G (p.Ser198Cys)
NM_000166.6(GJB1):c.596G>T (p.Gly199Val)
NM_000166.6(GJB1):c.59T>C (p.Ile20Thr) rs1569215025
NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) rs1602349730
NM_000166.6(GJB1):c.602G>C (p.Cys201Ser) rs1602349730
NM_000166.6(GJB1):c.608T>C (p.Ile203Thr) rs1602349749
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.6(GJB1):c.610C>G (p.Leu204Val) rs1064795540
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.615T>A (p.Asn205Lys) rs2092545880
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.622del (p.Glu208fs) rs2147946914
NM_000166.6(GJB1):c.625G>T (p.Val209Leu)
NM_000166.6(GJB1):c.629T>A (p.Val210Glu) rs1555937274
NM_000166.6(GJB1):c.630del (p.Tyr211fs) rs2092546021
NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys) rs2092546039
NM_000166.6(GJB1):c.633C>T (p.Tyr211=) rs1569215443
NM_000166.6(GJB1):c.635T>G (p.Leu212Arg) rs2092546062
NM_000166.6(GJB1):c.639C>T (p.Ile213=) rs2147946992
NM_000166.6(GJB1):c.642C>T (p.Ile214=)
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.655_670del (p.Arg219fs)
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln) rs1057524799
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.668G>A (p.Arg223His) rs1218391757
NM_000166.6(GJB1):c.668_675del (p.Arg223fs)
NM_000166.6(GJB1):c.675C>T (p.Ser225=)
NM_000166.6(GJB1):c.681A>T (p.Pro227=) rs2092546281
NM_000166.6(GJB1):c.68T>A (p.Val23Glu) rs1602348650
NM_000166.6(GJB1):c.68T>C (p.Val23Ala) rs1602348650
NM_000166.6(GJB1):c.699G>C (p.Ser233=)
NM_000166.6(GJB1):c.702C>T (p.Gly234=)
NM_000166.6(GJB1):c.711C>T (p.His237=)
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu) rs776206757
NM_000166.6(GJB1):c.717C>G (p.Leu239=) rs2147947208
NM_000166.6(GJB1):c.719C>T (p.Ser240Leu) rs2147947212
NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys) rs2147947218
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.736A>G (p.Asn246Asp)
NM_000166.6(GJB1):c.744C>A (p.Ile248=) rs2147947224
NM_000166.6(GJB1):c.759T>C (p.Ser253=)
NM_000166.6(GJB1):c.75C>G (p.Leu25=) rs1602348670
NM_000166.6(GJB1):c.762G>A (p.Glu254=)
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.788T>C (p.Leu263Pro)
NM_000166.6(GJB1):c.791G>A (p.Arg264His)
NM_000166.6(GJB1):c.803G>C (p.Gly268Ala)
NM_000166.6(GJB1):c.804C>T (p.Gly268=)
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012
NM_000166.6(GJB1):c.811G>T (p.Ala271Ser)
NM_000166.6(GJB1):c.816G>A (p.Gly272=)
NM_000166.6(GJB1):c.81C>T (p.Val27=)
NM_000166.6(GJB1):c.825A>G (p.Glu275=)
NM_000166.6(GJB1):c.831C>T (p.Ser277=) rs1444755256
NM_000166.6(GJB1):c.834C>A (p.Asp278Glu) rs1390397210
NM_000166.6(GJB1):c.836G>T (p.Arg279Leu)
NM_000166.6(GJB1):c.837C>G (p.Arg279=)
NM_000166.6(GJB1):c.837C>T (p.Arg279=) rs2092546981
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.841T>C (p.Ser281Pro) rs2092547003
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) rs866253945
NM_000166.6(GJB1):c.842C>T (p.Ser281Leu) rs866253945
NM_000166.6(GJB1):c.847T>C (p.Cys283Arg) rs2147947497
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) rs104894817
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.91T>C (p.Phe31Leu) rs2092542440
NM_000166.6(GJB1):c.92T>G (p.Phe31Cys) rs2147945057
NM_000166.6(GJB1):c.93C>T (p.Phe31=) rs1602348714
NM_000166.6(GJB1):c.99C>T (p.Ile33=) rs2092542459
NM_000166.6(GJB1):c.99_103dup (p.Val35fs) rs1602348726
NM_000166.6(GJB1):c.9G>A (p.Trp3Ter) rs863224472
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001097642.3(GJB1):c.-16-511G>T
NM_001097642.3(GJB1):c.-16-513T>C rs1003232768
NM_001097642.3(GJB1):c.-16-524C>G rs1060501001
NM_001097642.3(GJB1):c.-16-697G>A rs6525485

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.