List of variants in gene TBX1 reported as likely benign for Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	rs555522870	0.00026
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	rs918788695	0.00014
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)

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