ClinVar Miner

List of variants reported as pathogenic for pulmonary hypertension, primary, 2 by OMIM

Included ClinVar conditions (1):

Pulmonary hypertension, primary, 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001127217.3(SMAD9):c.127A>G (p.Lys43Glu)	rs397514715	0.00003
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	rs397514716	0.00001
NM_001127217.3(SMAD9):c.606C>A (p.Cys202Ter)	rs121918359

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