List of variants in gene RPE65 reported as benign for retinal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.644-33C>G	rs1925955	0.54169
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.*531A>G	rs3118418	0.18178
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	rs12145904	0.15903
NM_000329.3(RPE65):c.246-46G>A	rs3790471	0.03558
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.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.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.1302G>A (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)	rs56021047
NM_000329.3(RPE65):c.859-5dup

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