List of variants in gene PAH reported as pathogenic for Pulmonary hypertension, primary, 1

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	rs5030850	0.00001
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	rs5030847

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