List of variants in gene TBX4 reported as uncertain significance for cardiovascular disorder

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg)	rs146829316	0.00004
NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)	rs760185283	0.00002
NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu)	rs61739275	0.00001
NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln)	rs746247653	0.00001
NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser)	rs917982090	0.00001
NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)	rs2143792797
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	rs2143820895
NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)	rs1555882009
NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)	rs2143820920
NM_001321120.2(TBX4):c.500_502del (p.Ser167del)	rs2143825874
NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1])	rs2143825901
NM_001321120.2(TBX4):c.529C>T (p.His177Tyr)	rs2143825981
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)	rs886041115
NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)	rs2143856765

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.