ClinVar Miner

List of variants in gene CEP290 reported as benign by PreventionGenetics

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Total variants: 29
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HGVS dbSNP
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
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.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2554C>A (p.Gln852Lys) rs886038694
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2817+48A>G rs76460170
NM_025114.3(CEP290):c.2818-50G>C rs2471532
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.297+36A>G rs45468703
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-9delT rs10717563
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.442-19T>A rs113132803
NM_025114.3(CEP290):c.4704+46delT rs11356711
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-43G>A rs2468245
NM_025114.3(CEP290):c.5709+18C>A rs7973969
NM_025114.3(CEP290):c.5709+25A>C rs17015438
NM_025114.3(CEP290):c.5709+45G>C rs45477793
NM_025114.3(CEP290):c.6357+20A>T rs7971699
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.7035-38C>G rs45477492
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425

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