ClinVar Miner

List of variants studied for Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val) rs1936824289
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr) rs2145839048
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del) rs2145827836

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