ClinVar Miner

List of variants in gene ALPL reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr) rs750842585

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