ClinVar Miner

List of variants reported as likely benign for familial atrioventricular septal defect by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):

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
Atrioventricular septal defect 4
Atrioventricular septal defect 5
Congenital heart defects, multiple types, 4
Congenital heart defects, multiple types, 4; 46,xx sex reversal 5
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9
Familial atrioventricular septal defect
Familial atrioventricular septal defect; Penile hypospadias; Abnormality of the anus
Familial atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Visceral heterotaxy; Single Ventricle Defect
Familial atrioventricular septal defect; Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Primary microcephaly; Steroid-resistant nephrotic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	rs55633527	0.00326
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	rs143026087	0.00230
NM_021005.4(NR2F2):c.537C>T (p.Ser179=)	rs143951395	0.00055
NM_005257.6(GATA6):c.735G>A (p.Gly245=)	rs1031755167	0.00012
NM_005257.6(GATA6):c.525G>T (p.Ala175=)	rs759587190

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