ClinVar Miner

List of variants in gene CEP290 studied for Retinal dystrophy

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801 0.00029
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2818-2A>G rs2038012556
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter) rs2037229663
NM_025114.4(CEP290):c.3282T>G (p.Asn1094Lys) rs1565855129
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter) rs1345994179
NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.4(CEP290):c.4813-4A>G rs2036324053
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.6646-18A>G rs978362109
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) rs2033943937
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566

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