ClinVar Miner

List of variants in gene GATA4, LOC110121280 studied for atrioventricular septal defect 4

Included ClinVar conditions (5):

Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4
Atrial septal defect 2; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
Atrioventricular septal defect 4

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: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000008.11:g.11703278T>C	rs372004083	0.00030
NC_000008.11:g.11703355C>A	rs769262495	0.00012

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.