ClinVar Miner

List of variants in gene TBX5 reported as likely pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.148-2A>G rs1565942511
NM_181486.4(TBX5):c.242+5G>A rs1555226575
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
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.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.755+2T>C rs1565935314
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr) rs863223776

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