List of variants in gene GATA6 reported as uncertain significance for Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	rs387906816	0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala)	rs904519303	0.00021
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	rs146243018	0.00018
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr)	rs142601402	0.00015
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)	rs563978220	0.00010
NM_005257.6(GATA6):c.660C>T (p.Gly220=)	rs1385756157	0.00006
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro)	rs1253034411	0.00003
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala)	rs1194141406	0.00002
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu)	rs749567667	0.00001
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	rs1217533762
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)

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.