ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00019
NM_000277.3(PAH):c.653G>T (p.Gly218Val)	rs62514933	0.00001

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