ClinVar Miner

List of variants studied for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723
NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) rs1085307103

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