ClinVar Miner

List of variants in gene GATA6, MIB1, MIR1-2, MIR133A1 studied for GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes

Included ClinVar conditions (4):

Atrial septal defect 9
Atrioventricular septal defect 5
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9
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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NC_000018.9:g.(?_19383858)_(19780786_?)dup

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