ClinVar Miner

List of variants in gene RPE65 reported as benign for Leber congenital amaurosis 2; Retinitis pigmentosa 20

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Total variants: 4
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HGVS dbSNP
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901

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