ClinVar Miner

List of variants in gene NPHS2 studied for proteinuria

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)	rs869025495

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