ClinVar Miner

List of variants reported as likely pathogenic for Holt-Oram syndrome

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181486.4(TBX5):c.148-2A>G rs1565942511
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.242+5G>A rs1555226575
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)
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.704G>A (p.Gly235Glu) rs1870765797
NM_181486.4(TBX5):c.755+2T>C rs1565935314
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr) rs863223776

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