ClinVar Miner

List of variants reported as likely pathogenic for Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia

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Total variants: 2
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NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019

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