List of variants reported as pathogenic for GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	rs387906815	0.00087
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	rs387906816	0.00014
NC_000018.10:g.(?_22168362)_(22172289_?)del
NM_005257.6(GATA6):c.1151_1155del (p.Leu384fs)
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter)	rs2143300665
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs)	rs2143300954
NM_005257.6(GATA6):c.1456_1468del (p.Glu486fs)
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)	rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter)	rs1598737976
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter)	rs2033057699

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.