ClinVar Miner

List of variants in gene CEP290 reported as likely benign for Joubert syndrome

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Total variants: 7
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HGVS dbSNP
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020

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