ClinVar Miner

List of variants reported for Pulmonary arterial hypertension associated with congenital heart disease by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro) rs141691706 0.00001
NM_001753.5(CAV1):c.238A>G (p.Ser80Gly) rs369884333 0.00001
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter) rs146583835
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
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.419-38del rs10714063
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001321120.2(TBX4):c.1077del (p.Ser360fs) rs1555883805
NM_001321120.2(TBX4):c.1115del (p.Pro372fs) rs754897911
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) rs1555882009
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) rs1555882291
NM_001321120.2(TBX4):c.670_672del (p.Phe224del) rs1555883338
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469

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