ClinVar Miner

List of variants in gene ALPL reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18904
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.18344
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17623
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018

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