ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)

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