ClinVar Miner

List of variants studied for Pulmonary venoocclusive disease 1

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00004
NM_001204.7(BMPR2):c.2801G>C (p.Arg934Thr) rs575479720 0.00004
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545 0.00001
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs) rs1327297003
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.1120del (p.Ala373_Ile374insTer) rs1085307300
NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter) rs137852755
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)
NM_001204.7(BMPR2):c.2094del (p.Pro698_Leu699insTer) rs2105711729
NM_001204.7(BMPR2):c.44del (p.Pro15fs) rs483352902
NM_001204.7(BMPR2):c.530-2A>G rs2106003122
NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter) rs397514497
NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr) rs397514496
NM_001204.7(BMPR2):c.968-5A>G rs1060502584

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