ClinVar Miner

List of variants in gene CEP290 studied for CEP290-related ciliopathy

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00012
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.2288T>C (p.Ile763Thr) rs781177836 0.00002
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041 0.00001
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549 0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2558A>G (p.Gln853Arg)
NM_025114.4(CEP290):c.3103+2dup rs2500369835
NM_025114.4(CEP290):c.4346T>C (p.Leu1449Pro) rs2500010347
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5332C>A (p.Gln1778Lys)
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter) rs2499472817

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