List of variants in gene ALPL reported as pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	rs121918002	0.00007
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	rs121918008	0.00001
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	rs121918013
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)	rs121918004

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