ClinVar Miner

List of variants studied for proteinuria by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (16):

Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Downslanted palpebral fissures; Proteinuria; Kidney damage; Hematuria
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertensive disorder
Hearing impairment; Proteinuria; Hematuria
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis
Paroxysmal nocturnal hemoglobinuria 2
Proteinuria
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Proteinuria; Hematuria
Proteinuria; Microscopic hematuria; Moderate albuminuria
Proteinuria; Renal cyst
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertensive disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)	rs60910145	0.06710

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.