ClinVar Miner

List of variants in gene RPE65 reported as benign

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.998+207T>C rs3118421 0.96692
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_000329.3(RPE65):c.999-267A>G rs3125902 0.53829
NM_000329.3(RPE65):c.998+270C>A rs3118420 0.42212
NM_000329.3(RPE65):c.*915C>G rs3118416 0.42177
NM_000329.3(RPE65):c.*611G>A rs2182315 0.42147
NM_000329.3(RPE65):c.95-212A>G rs2012235 0.42043
NM_000329.3(RPE65):c.1450+104C>T rs932783 0.41964
NM_000329.3(RPE65):c.*531A>G rs3118418 0.18178
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000329.3(RPE65):c.998+112T>C rs12138573 0.15886
NM_000329.3(RPE65):c.11+99T>A rs3125907 0.10865
NM_000329.3(RPE65):c.12-281T>C rs2277874 0.06010
NM_000329.3(RPE65):c.245+284T>G rs2148138 0.04609
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_000329.3(RPE65):c.1339-39T>C rs13375676 0.03084
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.245+243C>T rs11209301 0.01817
NM_000329.3(RPE65):c.1128+2585A>C rs1555847 0.00955
NM_000329.3(RPE65):c.95-18G>A rs75886344 0.00747
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
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.978G>T (p.Val326=) rs61752907 0.00186
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
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.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_000329.3(RPE65):c.11+34T>A rs61751275
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.231C>A (p.Val77=) rs61752868
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.570C>T (p.Tyr190=) rs61752885
NM_000329.3(RPE65):c.609C>T (p.Ala203=) rs61752886
NM_000329.3(RPE65):c.859-5dup

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