List of variants in gene ALPL reported as likely pathogenic by Institute of Human Genetics, University of Wuerzburg

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)	rs886044912	0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	rs139811782	0.00001
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg)	rs1558558939
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)	rs1553415164
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)	rs1553414078

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