ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
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.355G>A (p.Glu119Lys) rs150529554 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.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964 0.00007
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_004004.5(GJB2):c.-259C>T rs1417111166 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 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.-7G>A rs398123813 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.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.647G>T (p.Arg216Ile) rs767233008 0.00003
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.122A>G (p.Lys41Arg) rs866127155 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 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.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.453G>A (p.Met151Ile) rs765115961 0.00001
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu) rs757699303 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
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.-47C>G rs1555342239
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
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.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.263C>A (p.Ala88Glu)
NM_004004.6(GJB2):c.275C>T (p.Ala92Val) rs1959060006
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)
NM_004004.6(GJB2):c.302AGA[2] (p.Lys103del) rs1555341934
NM_004004.6(GJB2):c.308A>G (p.Lys103Arg) rs915521910
NM_004004.6(GJB2):c.308A>T (p.Lys103Met)
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.371A>C (p.Gln124Pro)
NM_004004.6(GJB2):c.379C>G (p.Arg127Gly) 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.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.410C>G (p.Thr137Arg) rs1959058054
NM_004004.6(GJB2):c.419T>G (p.Ile140Ser)
NM_004004.6(GJB2):c.421TTC[1] (p.Phe142del)
NM_004004.6(GJB2):c.433_435del (p.Ile145del)
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly) rs1959057808
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
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.518C>T (p.Pro173Leu) rs1555341843
NM_004004.6(GJB2):c.528C>A (p.Asn176Lys)
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.582C>T (p.Phe194=) rs794727271
NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe) rs1555342006
NM_004004.6(GJB2):c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) rs398123815
NM_004004.6(GJB2):c.82_84del (p.Leu28del)
NM_004004.6(GJB2):c.8G>C (p.Trp3Ser)
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401

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