ClinVar Miner

List of variants studied for Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00002
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597

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