ClinVar Miner

List of variants studied for Hypopigmentation-punctate palmoplantar keratoderma syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.1391A>G (p.Asp464Gly) rs1782132213
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.446G>C (p.Cys149Ser) rs397518477
NM_006208.3(ENPP1):c.491G>C (p.Cys164Ser) rs397518476
NM_006208.3(ENPP1):c.530G>A (p.Cys177Tyr) rs397518475

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