ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679 0.00002
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2992-1G>T rs2037480294 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter) rs758878983 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.516+1G>A rs779409629 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C rs2501054131
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1521_1522+2dup
NM_025114.4(CEP290):c.1624-1G>C
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.175dup (p.Met59fs)
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter) rs2500867184
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1G>A rs2038915208
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter) rs1438792443
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer) rs2500742395
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2854del (p.Val952fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
NM_025114.4(CEP290):c.341del (p.Arg114fs)
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter) rs2500121621
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter) rs2500112760
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs) rs2500101115
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
NM_025114.4(CEP290):c.4195-2del
NM_025114.4(CEP290):c.441+1G>A rs1184012636
NM_025114.4(CEP290):c.442-1G>A rs2040047006
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs) rs2499974587
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter) rs2499957266
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5364+1G>A
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5710-2A>G
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter) rs2499744201
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6270+1G>A
NM_025114.4(CEP290):c.6358-2A>C
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs) rs2499571369
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6960+1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.725del (p.Asn242fs)
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
NM_025114.4(CEP290):c.852del (p.Val285fs)
NM_025114.4(CEP290):c.992del (p.Leu331fs)

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