ClinVar Miner

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

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017

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