ClinVar Miner

List of variants in gene CEP290 studied for Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis

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Gene type:
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Total variants: 149
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HGVS dbSNP
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1360-4T>G rs200328638
NM_025114.3(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.3(CEP290):c.1522+6C>T rs148446546
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.3(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.2217+6A>G rs139027723
NM_025114.3(CEP290):c.2268G>A (p.Ser756=) rs2468255
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys)
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys)
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val)
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.3(CEP290):c.3104-5T>G
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn)
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.3342G>A (p.Val1114=) rs754811220
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs) rs764309755
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.508A>T (p.Lys170Ter)
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5414del (p.Thr1807Glnfs)
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs) rs1565822519
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3(CEP290):c.6862del (p.Asn2290Ilefs)
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_025114.3(CEP290):c.943-8A>T rs200729812
NM_025114.3(CEP290):c.974T>C (p.Ile325Thr)
NM_025114.3:c.1072C>T
NM_025114.3:c.1536G>T
NM_025114.3:c.1645C>T
NM_025114.3:c.166C>T
NM_025114.3:c.2546A>T
NM_025114.3:c.322C>T
NM_025114.3:c.3418G>A
NM_025114.3:c.3605A>G
NM_025114.3:c.3802C>T
NM_025114.3:c.4028delA rs1213286417
NM_025114.3:c.4040G>A
NM_025114.3:c.4186C>T
NM_025114.3:c.4383G>T
NM_025114.3:c.5083G>T
NM_025114.3:c.5228C>T
NM_025114.3:c.5445_5448delAACT
NM_025114.3:c.5728_5731delATTA
NM_025114.3:c.5777G>C
NM_025114.3:c.6807T>G
NM_025114.3:c.7073_7077dupTAATC
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781

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