ClinVar Miner

List of variants in gene ALPL reported as uncertain significance by Institute of Human Genetics, University of Wuerzburg

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.-176C>T rs990367929 0.00007
NM_000478.6(ALPL):c.*7A>G rs753716865 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1462G>A (p.Ala488Thr) rs1570310172 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.1207A>T (p.Ser403Cys) rs1216428237
NM_000478.6(ALPL):c.1309+13G>A rs1397669293
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.793-10T>C rs1114167436

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