ClinVar Miner

List of variants in gene GJB4 reported as pathogenic 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: 6
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NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) rs80358210
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) rs80358211
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) rs80358207
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) rs80358206
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) rs80358213
NM_153212.3(GJB4):c.65G>A (p.Arg22His) rs80358212

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