ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 8
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NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581

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