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: 15
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NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1244-5C>T rs202185816
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.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907

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