ClinVar Miner

List of variants in gene RPE65 reported as uncertain significance for Leber congenital amaurosis 2; Retinitis pigmentosa 20

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Total variants: 5
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HGVS dbSNP
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841

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