ClinVar Miner

List of variants in gene GJB2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
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.*1016A>G rs537683957 0.00158
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.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
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.-22-2A>C rs201895089 0.00056
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.-22-35G>T rs191461105 0.00034
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
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.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740 0.00010
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.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004004.6(GJB2):c.477C>T (p.Asp159=) rs935617755 0.00005
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 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.571T>C (p.Phe191Leu) rs397516878 0.00003
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.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.108C>G (p.Leu36=) rs138547875 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.135A>T (p.Gly45=) rs777528049 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 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.203A>G (p.Tyr68Cys) rs397516870 0.00001
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755 0.00001
NM_004004.6(GJB2):c.228A>G (p.Leu76=) rs1959060799 0.00001
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067 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.33G>T (p.Gly11=) rs753943758 0.00001
NM_004004.6(GJB2):c.396G>A (p.Leu132=) rs755058488 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.456C>T (p.Tyr152=) rs111033420 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261 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.628T>C (p.Leu210=) rs1036073348 0.00001
NM_004004.6(GJB2):c.672G>A (p.Lys224=) rs757510867 0.00001
NC_000013.11:g.20193014G>A
NC_000013.11:g.20193112C>G rs531356872
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.-23+24_-23+32del
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875
NM_004004.6(GJB2):c.114G>A (p.Val38=)
NM_004004.6(GJB2):c.120A>G (p.Ala40=)
NM_004004.6(GJB2):c.147C>T (p.Ala49=)
NM_004004.6(GJB2):c.159C>T (p.Cys53=)
NM_004004.6(GJB2):c.15G>C (p.Thr5=) rs757226502
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.189G>T (p.Val63=) rs1959061331
NM_004004.6(GJB2):c.207C>T (p.Phe69=)
NM_004004.6(GJB2):c.237G>C (p.Leu79=)
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.252G>A (p.Val84=)
NM_004004.6(GJB2):c.255C>T (p.Ser85=)
NM_004004.6(GJB2):c.258G>T (p.Thr86=) rs139362103
NM_004004.6(GJB2):c.264G>A (p.Ala88=) rs754237172
NM_004004.6(GJB2):c.264G>C (p.Ala88=)
NM_004004.6(GJB2):c.267C>A (p.Leu89=)
NM_004004.6(GJB2):c.268C>T (p.Leu90=) rs1959060111
NM_004004.6(GJB2):c.276C>T (p.Ala92=) rs1593351392
NM_004004.6(GJB2):c.27C>A (p.Ile9=) rs1286249617
NM_004004.6(GJB2):c.282C>T (p.His94=) rs766998544
NM_004004.6(GJB2):c.288C>T (p.Ala96=)
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
NM_004004.6(GJB2):c.303G>A (p.Glu101=)
NM_004004.6(GJB2):c.310A>C (p.Arg104=)
NM_004004.6(GJB2):c.312G>A (p.Arg104=) rs267603770
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.330G>A (p.Glu110=)
NM_004004.6(GJB2):c.342A>G (p.Glu114=)
NM_004004.6(GJB2):c.351C>T (p.Asp117=)
NM_004004.6(GJB2):c.354C>T (p.Ile118=) rs1260220204
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.378C>A (p.Val126=) rs2137307737
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.387A>G (p.Glu129=) rs2137307697
NM_004004.6(GJB2):c.393C>G (p.Ser131=)
NM_004004.6(GJB2):c.39G>A (p.Val13=) rs1415433002
NM_004004.6(GJB2):c.405C>T (p.Thr135=)
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.420C>T (p.Ile140=) rs1214625738
NM_004004.6(GJB2):c.423C>T (p.Phe141=)
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.441A>G (p.Glu147=)
NM_004004.6(GJB2):c.444C>G (p.Ala148=) rs757029266
NM_004004.6(GJB2):c.447C>A (p.Ala149=) rs2137307569
NM_004004.6(GJB2):c.447C>T (p.Ala149=)
NM_004004.6(GJB2):c.468C>T (p.Val156=) rs2137307508
NM_004004.6(GJB2):c.48C>T (p.His16=)
NM_004004.6(GJB2):c.504G>A (p.Lys168=) rs2137307395
NM_004004.6(GJB2):c.513C>G (p.Ala171=) rs2137307355
NM_004004.6(GJB2):c.51C>A (p.Ser17=) rs1959063254
NM_004004.6(GJB2):c.51C>T (p.Ser17=) rs1959063254
NM_004004.6(GJB2):c.522T>C (p.Cys174=) rs2137307325
NM_004004.6(GJB2):c.531T>C (p.Thr177=)
NM_004004.6(GJB2):c.534G>C (p.Val178=)
NM_004004.6(GJB2):c.537C>T (p.Asp179=)
NM_004004.6(GJB2):c.546G>T (p.Val182=)
NM_004004.6(GJB2):c.552G>A (p.Arg184=) rs2137307254
NM_004004.6(GJB2):c.561G>A (p.Glu187=)
NM_004004.6(GJB2):c.567T>C (p.Thr189=)
NM_004004.6(GJB2):c.570C>T (p.Val190=)
NM_004004.6(GJB2):c.576A>C (p.Thr192=)
NM_004004.6(GJB2):c.588T>C (p.Ile196=)
NM_004004.6(GJB2):c.594G>A (p.Val198=)
NM_004004.6(GJB2):c.600A>C (p.Gly200=) rs2137307091
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.645T>C (p.Ile215=) rs750216973
NM_004004.6(GJB2):c.646A>C (p.Arg216=) rs1446334784
NM_004004.6(GJB2):c.66G>A (p.Lys22=) rs879253741
NM_004004.6(GJB2):c.680A>G (p.Ter227=)
NM_004004.6(GJB2):c.69C>T (p.Ile23=)
NM_004004.6(GJB2):c.6T>C (p.Asp2=) rs1463179125

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