ClinVar Miner

List of variants reported as pathogenic for diffuse palmoplantar keratoderma by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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