ClinVar Miner

List of variants in gene CEP290 reported as pathogenic for Senior-Loken syndrome 6

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs) rs2137713030
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.366del (p.Lys122fs)

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