ClinVar Miner

List of variants in gene RPE65 reported as benign for not specified

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000329.3(RPE65):c.643+22C>T rs2274321 0.03055
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164 0.00199
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.1302G>C (p.Ala434=) rs62636301

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