ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611

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