ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 2 by OMIM

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Total variants: 7
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NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904

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