ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Cytogenetics and Genomics Laboratory,Medical University of South Carolina

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Total variants: 5
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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
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939

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