ClinVar Miner

List of variants in gene TBX5 studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr) rs1565941579
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_181486.4(TBX5):c.404T>G (p.Leu135Arg) rs1057519050
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382

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