ClinVar Miner

List of variants in gene TBX5 reported as likely pathogenic

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs) rs1593836748
NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter) rs863223778
NM_181486.4(TBX5):c.1158del (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)
NM_181486.4(TBX5):c.148-2A>G rs1565942511
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.188del (p.Leu63fs) rs1555226584
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.242+5G>A rs1555226575
NM_181486.4(TBX5):c.243-1G>A rs1871673582
NM_181486.4(TBX5):c.250T>C (p.Phe84Leu) rs1131691460
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_181486.4(TBX5):c.363-2A>G rs1565941072
NM_181486.4(TBX5):c.376_402del (p.Lys126_Arg134del) rs863223782
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
NM_181486.4(TBX5):c.404T>G (p.Leu135Arg) rs1057519050
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys) rs2136416601
NM_181486.4(TBX5):c.510+1G>T rs1565940841
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.510+5G>C rs1555226301
NM_181486.4(TBX5):c.511-1G>A
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter) rs2136410724
NM_181486.4(TBX5):c.658_660del (p.His220del) rs1871328960
NM_181486.4(TBX5):c.664-2A>G rs1565935458
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.676A>G (p.Lys226Glu) rs1131691932
NM_181486.4(TBX5):c.677A>G (p.Lys226Arg) rs1565935426
NM_181486.4(TBX5):c.697G>C (p.Ala233Pro) rs1870766319
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu) rs1870765797
NM_181486.4(TBX5):c.755+2T>C rs1565935314
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.985_987delinsAC (p.Glu329fs) rs1555223294
NM_181486.4(TBX5):c.985_987delinsAG (p.Glu329fs) rs1555223294

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