ClinVar Miner

List of variants in gene CEP290 reported by Gharavi Laboratory,Columbia University

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Total variants: 6
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NM_025114.3(CEP290):c.1392_1393insCTACTTA (p.Ile465Leufs) rs1565900023
NM_025114.3(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.3(CEP290):c.2708T>G (p.Leu903Ter)
NM_025114.3(CEP290):c.2738_2742del (p.Glu913Glyfs) rs1565876618
NM_025114.3(CEP290):c.3829_3830delGCinsCT (p.Ala1277Leu) rs1565845877
NM_025114.3(CEP290):c.4704+1G>T rs1565835538

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