ClinVar Miner

List of variants in gene TBX5 reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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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.148-2A>G rs1565942511
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
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.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.394C>A (p.Pro132Thr)
NM_181486.4(TBX5):c.404T>G (p.Leu135Arg) rs1057519050
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.511-1del
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.677A>G (p.Lys226Arg) rs1565935426
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

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