ClinVar Miner

List of variants studied for Hypopigmentation-punctate palmoplantar keratoderma syndrome by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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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