ClinVar Miner

List of variants studied for retinitis punctata albescens by 3billion, Medical Genetics

Included ClinVar conditions (6):

Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal dystrophy
Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4
Pigmentary retinal dystrophy
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3
Retinitis pigmentosa; Retinitis punctata albescens
Retinitis punctata albescens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)	rs137853290	0.00001
NM_002905.5(RDH5):c.394G>A (p.Val132Met)	rs62638187	0.00001

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