ClinVar Miner

List of variants in gene CEP290 studied for Retinal dystrophy

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Total variants: 7
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HGVS dbSNP
NM_025114.3(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.297+1G>T rs878853360
NM_025114.3(CEP290):c.3181_3182delAT (p.Met1061Alafs) rs878853362
NM_025114.3(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158

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