ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Joubert syndrome; Polycystic kidney dysplasia; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys

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Total variants: 2
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NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158

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