ClinVar Miner

List of variants in gene GJB2 studied for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-23+1G>A rs80338940
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.109G>A (p.Val37Ile) rs72474224
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.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165

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