List of variants in gene GJB2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 117

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HGVS	dbSNP
NC_000013.11:g.20192983G>C
NM_004004.5(GJB2):c.-208G>T	rs1555342246
NM_004004.5(GJB2):c.-216T>G	rs574815423
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)	rs111033335
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.*1C>T	rs111033327
NM_004004.6(GJB2):c.*3C>A	rs111033460
NM_004004.6(GJB2):c.-127G>C	rs727503068
NM_004004.6(GJB2):c.-15C>T	rs72561725
NM_004004.6(GJB2):c.-174C>G	rs541058463
NM_004004.6(GJB2):c.-22-12C>T	rs9578260
NM_004004.6(GJB2):c.-22-6T>C	rs141962118
NM_004004.6(GJB2):c.-23+12G>A	rs397516866
NM_004004.6(GJB2):c.-23+1G>A	rs80338940
NM_004004.6(GJB2):c.-23G>T	rs786204734
NM_004004.6(GJB2):c.-30C>T	rs397516867
NM_004004.6(GJB2):c.-45C>A	rs397516868
NM_004004.6(GJB2):c.-6T>A	rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622
NM_004004.6(GJB2):c.101T>G (p.Met34Arg)	rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224
NM_004004.6(GJB2):c.109G>T (p.Val37Phe)	rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	rs141774369
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)	rs111033296
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	rs111033222
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	rs1326514987
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	rs111033297
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)	rs104894404
NM_004004.6(GJB2):c.186C>T (p.Asn62=)	rs397516869
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)	rs111033203
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	rs111033293
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys)	rs397516870
NM_004004.6(GJB2):c.219C>T (p.His73=)	rs727504755
NM_004004.6(GJB2):c.21G>A (p.Gln7=)	rs137932057
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	rs28931593
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	rs111033361
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	rs727504302
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218
NM_004004.6(GJB2):c.250G>A (p.Val84Met)	rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.267C>G (p.Leu89=)	rs727503067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs)	rs730880338
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	rs397516871
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)	rs1593351383
NM_004004.6(GJB2):c.281A>T (p.His94Leu)	rs397516872
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083
NM_004004.6(GJB2):c.299_300del (p.His100fs)	rs111033204
NM_004004.6(GJB2):c.300T>C (p.His100=)	rs1317569039
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	rs397516873
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly)	rs111033441
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)	rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	rs111033188
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	rs397516874
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	rs727503066
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.384C>T (p.Ile128=)	rs111033298
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)	rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)	rs779018464
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)	rs397516876
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)	rs397516877
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	rs111033225
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186
NM_004004.6(GJB2):c.470T>C (p.Met157Thr)	rs727504789
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.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.523_533del (p.Pro175fs)	rs876657693
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)	rs770116143
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.596C>T (p.Ser199Phe)	rs771748289
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	rs76838169
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294
NM_004004.6(GJB2):c.645del (p.Arg216fs)	rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	rs111033194
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	rs773846324
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396
NM_004004.6(GJB2):c.78C>T (p.Thr26=)	rs201848820
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	rs2274084
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401

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