List of variants in gene GJB2 reported as uncertain significance

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP
NC_000013.11:g.20189302G>A
NM_004004.5(GJB2):c.-208G>T	rs1555342246
NM_004004.5(GJB2):c.-259C>T	rs1417111166
NM_004004.5(GJB2):c.-260C>T	rs886037626
NM_004004.6(GJB2):c.*1206T>G	rs886050026
NM_004004.6(GJB2):c.1291_1294del	rs886050025
NM_004004.6(GJB2):c.*1C>T	rs111033327
NM_004004.6(GJB2):c.*423C>T	rs112457424
NM_004004.6(GJB2):c.*482A>G	rs886050028
NM_004004.6(GJB2):c.*598C>A	rs550600399
NM_004004.6(GJB2):c.*800A>G	rs886050027
NM_004004.6(GJB2):c.*979A>G	rs546826225
NM_004004.6(GJB2):c.-112A>C	rs1555342240
NM_004004.6(GJB2):c.-127G>C	rs727503068
NM_004004.6(GJB2):c.-22-12C>G	rs9578260
NM_004004.6(GJB2):c.-22-18T>A	rs778602324
NM_004004.6(GJB2):c.-22-1G>A	rs551625098
NM_004004.6(GJB2):c.-22-2A>C	rs201895089
NM_004004.6(GJB2):c.-22-2A>G	rs201895089
NM_004004.6(GJB2):c.-22-6T>C	rs141962118
NM_004004.6(GJB2):c.-30C>T	rs397516867
NM_004004.6(GJB2):c.-47C>G	rs1555342239
NM_004004.6(GJB2):c.-7G>A	rs398123813
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	rs141774369
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=)	rs561870637
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	rs1326514987
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)	rs1057517976
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
NM_004004.6(GJB2):c.154G>C (p.Val52Leu)	rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg)	rs1555341986
NM_004004.6(GJB2):c.171G>A (p.Gln57=)	rs1064797175
NM_004004.6(GJB2):c.187G>A (p.Val63Met)	rs370696868
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	rs370696868
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr)	rs1373154561
NM_004004.6(GJB2):c.226C>G (p.Leu76Val)	rs1566528748
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	rs111033361
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro)	rs1555341957
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	rs145216882
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	rs533231493
NM_004004.6(GJB2):c.257C>T (p.Thr86Met)	rs1291519904
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu)	rs1555341946
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)	rs1555341945
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)	rs765921870
NM_004004.6(GJB2):c.278T>C (p.Met93Thr)	rs1461894310
NM_004004.6(GJB2):c.281A>T (p.His94Leu)	rs397516872
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)	rs1250849257
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	rs371086981
NM_004004.6(GJB2):c.301_303del (p.Glu101del)	rs1555341937
NM_004004.6(GJB2):c.302_304AGA[2] (p.Lys103del)	rs1555341934
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu)	rs779358271
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)	rs1290698257
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)	rs1003660637
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	rs80338946
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)	rs111033441
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)	rs528216023
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)	rs1801002
NM_004004.6(GJB2):c.37G>A (p.Val13Met)	rs768130937
NM_004004.6(GJB2):c.380G>A (p.Arg127His)	rs111033196
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	rs111033196
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)	rs397516875
NM_004004.6(GJB2):c.401_403del (p.Trp134_Thr135delinsSer)	rs1555341910
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)	rs1555341907
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)	rs116769964
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del)	rs1555341874
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)	rs727504789
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)	rs373684994
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	rs1273330603
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met)	rs111033360
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)	rs200104362
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys)	rs28929485
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645
NM_004004.6(GJB2):c.512C>T (p.Ala171Val)	rs1555341850
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	rs770330002
NM_004004.6(GJB2):c.518C>T (p.Pro173Leu)	rs1555341843
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)	rs1555341840
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)	rs1275901105
NM_004004.6(GJB2):c.535G>C (p.Asp179His)	rs28931595
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.563A>G (p.Lys188Arg)	rs1131691709
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)	rs199790409
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	rs397516878
NM_004004.6(GJB2):c.582C>T (p.Phe194=)	rs794727271
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	rs1378679640
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)	rs570552952
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	rs765172751
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224
NM_004004.6(GJB2):c.628T>C (p.Leu210=)	rs1036073348
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	rs375599392
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)	rs766975999
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	rs111033194
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)	rs1555341782
NM_004004.6(GJB2):c.677T>A (p.Val226Asp)
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	rs773846324
NM_004004.6(GJB2):c.73C>T (p.Leu25Phe)	rs1555342006
NM_004004.6(GJB2):c.77_106dup (p.Leu36_Val37insProValLeuPheIlePheArgIleMetIle)	rs398123815
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)	rs374625633

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