List of variants in gene GATA6 studied 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
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	rs143026087	0.00234
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.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.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.1135+1G>A
NM_005257.6(GATA6):c.1135+2T>C
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	rs1217533762
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)
NM_005257.6(GATA6):c.525G>T (p.Ala175=)	rs759587190

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