ClinVar Miner

List of variants reported as uncertain significance for Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19

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Total variants: 4
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NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163

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