ClinVar Miner

List of variants studied for Pulmonary arterial hypertension; Mitral valve prolapse; Right ventricular hypertrophy; Pulmonary artery dilatation; Right ventricular dilatation; Elevated right atrial pressure; Increased pulmonary vascular resistance; Right bundle branch block by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031

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