ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531

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