ClinVar Miner

List of variants in gene BMPR2 studied for Pulmonary arterial hypertension associated with congenital heart disease

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg) rs1085307167
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp) rs1085307168
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys) rs1553503208
NM_001204.7(BMPR2):c.304A>G (p.Thr102Ala) rs1085307206
NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) rs1085307207
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.556A>G (p.Met186Val) rs1085307244

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