ClinVar Miner

List of variants in gene TBX5 reported as benign for aortic valve disease

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000192.3(TBX5):c.1281C>T (p.Ser427=) rs6489957
NM_000192.3(TBX5):c.1545C>T (p.Ser515=) rs186780790
NM_000192.3(TBX5):c.309C>T (p.Leu103=) rs28730763
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081

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