ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
NM_001127217.2(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.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_001697.3(ATP5PO):c.87+3A>G
NM_006035.4(CDC42BPB):c.1630dup (p.Glu544fs) rs1595482918
NM_006035.4(CDC42BPB):c.2290C>T (p.Arg764Ter) rs1595476797
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys) rs1595472764
NM_006035.4(CDC42BPB):c.2612T>C (p.Leu871Pro) rs1595472756
NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp) rs1595472741
NM_006035.4(CDC42BPB):c.2627G>C (p.Arg876Pro) rs1595472739
NM_006035.4(CDC42BPB):c.37_50del (p.Leu13fs) rs1595208914
NM_006035.4(CDC42BPB):c.3896G>A (p.Arg1299Gln) rs1595450393
NM_006035.4(CDC42BPB):c.4049G>C (p.Arg1350Pro) rs1595450125
NM_006035.4(CDC42BPB):c.424G>A (p.Ala142Thr) rs1198710710
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006035.4(CDC42BPB):c.879C>G (p.Ile293Met) rs1016320330
NM_016209.5(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.3782+3_3782+6del rs1131691771
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845

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