ClinVar Miner

List of variants in gene NPHP4 studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):

Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i
Cone-rod dystrophy 6; Leber congenital amaurosis 1
Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 15; Leber congenital amaurosis
Muscular dystrophy; Leber congenital amaurosis
Retinitis pigmentosa 20; Leber congenital amaurosis; RPE65-related disorder
Retinitis pigmentosa; Leber congenital amaurosis

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_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)	rs587783027	0.00006
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu)	rs587783026

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