ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397

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