List of variants in gene RPE65 reported as uncertain significance 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)
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Total variants: 21

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HGVS	dbSNP
NM_000329.3(RPE65):c.*511G>A	rs149449684
NM_000329.3(RPE65):c.*517G>A	rs574708413
NM_000329.3(RPE65):c.*588C>A	rs541546843
NM_000329.3(RPE65):c.*735del	rs577675068
NM_000329.3(RPE65):c.*760A>C	rs886046508
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)	rs139640666
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
NM_000329.3(RPE65):c.1243+10T>C	rs548537552
NM_000329.3(RPE65):c.1386G>A (p.Glu462=)	rs886046509
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	rs1395763356
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)	rs1553153597
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)	rs201062742
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)	rs372620785
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	rs61752878
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583
NM_000329.3(RPE65):c.48T>C (p.Phe16=)	rs62642581
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)	rs886046510
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	rs1553153135
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)	rs144612129
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)	rs761227832
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	rs1169420841

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