ClinVar Miner

List of variants in gene RPE65 reported as likely benign for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.1243+29G>A rs116540274 0.01138
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046 0.00002
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.675C>A (p.Ile225=) rs114379164

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