ClinVar Miner

List of variants studied for Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) rs142601402 0.00015
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) rs749567667 0.00001
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)

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