ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Leber congenital amaurosis

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Total variants: 5
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NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020

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