ClinVar Miner

List of variants reported as pathogenic for familial atrioventricular septal defect by OMIM

Included ClinVar conditions (11):

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

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)	rs115372595	0.00144
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	rs387906815	0.00087
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	rs387906769	0.00004
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr)	rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	rs780808943
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)	rs1555447012
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)	rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs)	rs886041730
NM_021005.4(NR2F2):c.970+1G>A	rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)	rs1899167019

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