ClinVar Miner

List of variants in gene ALPL reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00011

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