ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Joubert syndrome 1

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031

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