List of variants in gene TBX1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.1010del (p.Pro337fs)	rs1425319851
NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs)	rs1057518168
NM_001379200.1(TBX1):c.1214del (p.Pro405fs)	rs1601294188
NM_001379200.1(TBX1):c.525_528dup (p.Lys177delinsArgTer)	rs886042049
NM_001379200.1(TBX1):c.823G>T (p.Glu275Ter)	rs144848597
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)	rs1936634853
NM_001379200.1(TBX1):c.935G>A (p.Trp312Ter)	rs1569022780

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.