ClinVar Miner

List of variants in gene GATA6 studied for atrial septal defect 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
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.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
NM_005257.6(GATA6):c.1441C>A (p.Leu481Ile)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.525G>T (p.Ala175=) rs759587190
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659

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.