ClinVar Miner

List of variants reported as likely pathogenic by Wendy Chung Laboratory,Columbia University Medical Center

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Total variants: 11
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HGVS dbSNP
NC_000002.11:g.203397450_203407034del9585insAGA
NM_001127217.2(SMAD9):c.204C>A (p.Cys68Ter) rs146583835
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
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_017934.5(PHIP):c.3782+3_3782+6delAAGT rs1131691771
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845

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