ClinVar Miner

List of variants studied for Congenital stationary night blindness by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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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_002905.5(RDH5):c.839G>A (p.Arg280His) rs62638193 0.00011
NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln) rs139108078 0.00002

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