ClinVar Miner

List of variants studied for Pulmonary venoocclusive disease 1 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter)	rs137852755
NM_001204.7(BMPR2):c.44del (p.Pro15fs)	rs483352902
NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter)	rs397514497
NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)	rs397514496

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