ClinVar Miner

List of variants in gene CEP290 reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
CEP290, 1-BP DEL, 4656A
CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL
CEP290, 5-BP DEL, 1260TAAAG
CEP290, EX3, T-A, +2
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835

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