ClinVar Miner

List of variants reported for Hypophosphatasia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451

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