ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic

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Total variants: 52
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HGVS dbSNP
NM_025114.3(CEP290):c.1190-2A>G rs200818935
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.180+2T>A rs386834150
NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) rs386834151
NM_025114.3(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.3(CEP290):c.2682_2683insA (p.Ser895Ilefs) rs1555216730
NM_025114.3(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.3(CEP290):c.3012delA (p.Glu1005Asnfs) rs1555213204
NM_025114.3(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) rs62640570
NM_025114.3(CEP290):c.3181_3182delAT (p.Met1061Alafs) rs878853362
NM_025114.3(CEP290):c.3190delA (p.Met1064Terfs) rs786205620
NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) rs386834155
NM_025114.3(CEP290):c.3777_3778delAG (p.Arg1259Serfs) rs765483163
NM_025114.3(CEP290):c.3784_3785insTT (p.His1262Leufs) rs1064797171
NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) rs386834156
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4705-1G>T rs777464278
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
NM_025114.3(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5710-3C>G rs1555202126
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_025114.3(CEP290):c.6135+2T>A rs1555200648
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6871C>T (p.Gln2291Ter)
NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781

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