ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) rs372115732 0.00008
NM_001321120.2(TBX4):c.1106G>A (p.Arg369His) rs765868170 0.00006
NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr) rs769578381 0.00006
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser) rs536406541 0.00005
NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg) rs146829316 0.00004
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) rs147641113 0.00002
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) rs200429513 0.00002
NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu) rs760185283 0.00002
NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu) rs61739275 0.00001
NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg) rs577394793 0.00001
NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys) rs765739860 0.00001
NM_001321120.2(TBX4):c.1426A>C (p.Asn476His) rs1181682853 0.00001
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) rs774711057 0.00001
NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln) rs746247653 0.00001
NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser) rs917982090 0.00001
NM_001321120.2(TBX4):c.-3-581G>A rs947798202
NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter) rs2143862882
NM_001321120.2(TBX4):c.1021+1G>A rs1428934331
NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro) rs2143862912
NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys) rs767227688
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) rs1603256040
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) rs2143870166
NM_001321120.2(TBX4):c.1077del (p.Ser360fs) rs1555883805
NM_001321120.2(TBX4):c.1115del (p.Pro372fs) rs754897911
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter) rs1183527120
NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter) rs1183527120
NM_001321120.2(TBX4):c.113dup (p.Leu39fs) rs2143792404
NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs) rs1603256095
NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs) rs2143870712
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) rs1569046598
NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro) rs2143870757
NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln) rs1224135577
NM_001321120.2(TBX4):c.1354A>G (p.Met452Val) rs2143871702
NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs) rs2143872061
NM_001321120.2(TBX4):c.143dup (p.Pro50fs) rs1414958198
NM_001321120.2(TBX4):c.1461dup (p.Pro488fs) rs2143872274
NM_001321120.2(TBX4):c.146del (p.Gly49fs) rs2143792571
NM_001321120.2(TBX4):c.150del (p.Ala52fs) rs2143792602
NM_001321120.2(TBX4):c.153_181del (p.Val54fs) rs2143792619
NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys) rs2143872706
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) rs28936696
NM_001321120.2(TBX4):c.167C>T (p.Ala56Val) rs2143792797
NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs) rs2143792897
NM_001321120.2(TBX4):c.210dup (p.Leu71fs) rs2143795994
NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg) rs2143796152
NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter) rs2143796161
NM_001321120.2(TBX4):c.251del (p.Gly84fs) rs1603248606
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) rs2143820885
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) rs1555882009
NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu) rs1555882009
NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys) rs2143820920
NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu) rs2143820942
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) rs2143821059
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) rs2143821228
NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser) rs2143821238
NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser) rs2143821275
NM_001321120.2(TBX4):c.40_49del (p.Phe14fs) rs1603248167
NM_001321120.2(TBX4):c.432G>T (p.Met144Ile) rs777426077
NM_001321120.2(TBX4):c.500_502del (p.Ser167del) rs2143825874
NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1]) rs2143825901
NM_001321120.2(TBX4):c.524_527del (p.Asn175fs) rs2143825923
NM_001321120.2(TBX4):c.529C>T (p.His177Tyr) rs2143825981
NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser) rs2143826017
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.571_576del (p.Lys191_Tyr192del) rs2143856765
NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter) rs1209188502
NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter) rs747369610
NM_001321120.2(TBX4):c.664del (p.Thr222fs) rs2143857127
NM_001321120.2(TBX4):c.670_672del (p.Phe224del) rs1555883338
NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr) rs2143857179
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr) rs2143860870
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) rs2143860927
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469
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.901C>T (p.Gln301Ter) rs2143862349
NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter) rs2060654004
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) rs202061937
NM_001321120.2(TBX4):c.972del (p.Thr326fs) rs1603255327
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) rs150233337

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