ClinVar Miner

List of variants studied for diffuse palmoplantar keratoderma by Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) rs28937888 0.00003
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)

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