ClinVar Miner

List of variants in gene GJB6 reported as uncertain significance for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001110219.3(GJB6):c.*25C>T rs112845420
NM_001110219.3(GJB6):c.*559C>T rs886050029
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.*714C>T rs76179836
NM_001110219.3(GJB6):c.-122T>C rs886050031
NM_001110219.3(GJB6):c.-149G>A rs886050032
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-26A>G rs886050030
NM_001110219.3(GJB6):c.-295-100C>T rs55901410
NM_001110219.3(GJB6):c.-295-129G>A rs539881427
NM_001110219.3(GJB6):c.-295-192A>G rs886050036
NM_001110219.3(GJB6):c.-295-210G>A rs61058739
NM_001110219.3(GJB6):c.-295-278G>A rs573703525
NM_001110219.3(GJB6):c.-295-99A>C rs886050035
NM_001110219.3(GJB6):c.-296+210C>A rs886050039
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.-296+269G>A rs142230271
NM_001110219.3(GJB6):c.-296+283T>C rs886050037
NM_001110219.3(GJB6):c.-3G>A rs372835743
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650

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