List of variants in gene RPE65 reported as benign for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.1301C>T (p.Ala434Val)	rs34627040	0.02403
NM_000329.3(RPE65):c.399T>C (p.Leu133=)	rs59257923	0.00728
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	rs61752901	0.00232
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.1302G>A (p.Ala434=)	rs62636301
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)	rs56021047

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