ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.4029G>A (p.Lys1343=) rs1057519245 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
NM_025114.4(CEP290):c.297+3A>G
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer) rs786205620
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3355del (p.Arg1119fs)
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs) rs765483163
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs) rs1064797171
NM_025114.4(CEP290):c.4029+1G>A rs2036808766
NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter) rs2035405646
NM_025114.4(CEP290):c.6135+2T>A rs1555200648
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter) rs763473957
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs) rs1177923180
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.4(CEP290):c.739_740del (p.Val247fs) rs1592671618

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