ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_152443.3(RDH12):c.2T>C (p.Met1Thr) rs2503779888

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