ClinVar Miner

List of variants in gene CEP290 reported as pathogenic by Molecular Diagnostics Laboratory,Seoul National University Hospital

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Total variants: 4
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HGVS dbSNP
NM_025114.3(CEP290):c.1711+1G>A rs587783009
NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) rs587783010
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017

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