ClinVar Miner

List of variants in gene TBX4 reported as likely pathogenic by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) rs200429513 0.00002
NM_001321120.2(TBX4):c.1021+1G>A rs1428934331
NM_001321120.2(TBX4):c.1115del (p.Pro372fs) rs754897911
NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter) rs1183527120
NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs) rs2143872061
NM_001321120.2(TBX4):c.146del (p.Gly49fs) rs2143792571
NM_001321120.2(TBX4):c.150del (p.Ala52fs) rs2143792602
NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs) rs2143792897
NM_001321120.2(TBX4):c.210dup (p.Leu71fs) rs2143795994
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) rs1555882009
NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser) rs2143821238
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) rs1555882291
NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs) rs2143856709
NM_001321120.2(TBX4):c.569A>C (p.His190Pro) rs2143856758
NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter) rs1209188502
NM_001321120.2(TBX4):c.664del (p.Thr222fs) rs2143857127
NM_001321120.2(TBX4):c.670_672del (p.Phe224del) rs1555883338
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321120.2(TBX4):c.789del (p.Ser264fs) rs2143861174
NM_001321120.2(TBX4):c.792-1G>C rs1603255224
NM_001321120.2(TBX4):c.847dup (p.Gln283fs) rs766300906
NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter) rs2060654004

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