ClinVar Miner

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

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Total variants: 7
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NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.95-2A>T rs61751279

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