ClinVar Miner

List of variants reported as uncertain significance for atrioventricular septal defect by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (4):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)	rs143796440	0.00004
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	rs137953195

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