ClinVar Miner

List of variants in gene CEP290 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP
GRCh37/hg19 12q21.32(chr12:88447483-88530520)x3
GRCh37/hg19 12q21.32(chr12:88448136-88524191)x3
GRCh37/hg19 12q21.32(chr12:88448136-88530520)x3
GRCh37/hg19 12q21.32(chr12:88453608-88530520)x3
GRCh37/hg19 12q21.32(chr12:88454677-88524191)x3
GRCh37/hg19 12q21.32(chr12:88462318-88524191)x3
NC_000012.12:g.88053784G>C
NC_000012.12:g.88054551T>A
NC_000012.12:g.88055319A>G
NC_000012.12:g.88077177C>G
NC_000012.12:g.88077197T>G
NC_000012.12:g.88077266C>G
NC_000012.12:g.88079530T>G
NC_000012.12:g.88082889T>C
NC_000012.12:g.88084211T>C
NC_000012.12:g.88084272T>A
NC_000012.12:g.88084305C>T
NC_000012.12:g.88084322del
NC_000012.12:g.88084865A>G
NC_000012.12:g.88085964_88085967del
NC_000012.12:g.88086839G>A
NC_000012.12:g.88086846G>A
NC_000012.12:g.88089085T>C
NC_000012.12:g.88089496del
NC_000012.12:g.88090541G>T
NC_000012.12:g.88091125T>C
NC_000012.12:g.88093545A>C
NC_000012.12:g.88100941C>T
NC_000012.12:g.88101513G>C
NC_000012.12:g.88108840C>T
NC_000012.12:g.88109218A>C
NC_000012.12:g.88111559T>A
NC_000012.12:g.88114390del
NC_000012.12:g.88116952A>C
NC_000012.12:g.88117018A>G
NC_000012.12:g.88118475G>A
NC_000012.12:g.88120108G>A
NC_000012.12:g.88125624A>G
NC_000012.12:g.88128675T>C
NC_000012.12:g.88129888_88129889del
NC_000012.12:g.88130834C>A
NC_000012.12:g.88131303G>A
NC_000012.12:g.88139109T>C
NC_000012.12:g.88139284T>C
NC_000012.12:g.88141390T>G
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1104C>T (p.Thr368=) rs483352755
NM_025114.3(CEP290):c.1175T>G (p.Leu392Arg) rs794727106
NM_025114.3(CEP290):c.1190-2A>G rs200818935
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1214C>T (p.Thr405Ile) rs781183605
NM_025114.3(CEP290):c.1384G>A (p.Val462Ile) rs374199052
NM_025114.3(CEP290):c.1392_1393insCTACTTA (p.Ile465Leufs) rs1565900023
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1550delT (p.Leu517Terfs) rs62640579
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) rs727503855
NM_025114.3(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
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.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.181-1G>T rs281865190
NM_025114.3(CEP290):c.181-2A>G rs886042359
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) rs766608755
NM_025114.3(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.3(CEP290):c.2068A>C (p.Asn690His) rs398124411
NM_025114.3(CEP290):c.2089G>C (p.Ala697Pro) rs886044122
NM_025114.3(CEP290):c.2118_2122dupTCAGC (p.Thr709Serfs) rs62640580
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2218-4_2222del rs281865193
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.2487A>G (p.Glu829=) rs371159780
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.251-11dup rs752284551
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.265dupA (p.Thr89Asnfs) rs281865191
NM_025114.3(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.3(CEP290):c.2682_2683insA (p.Ser895Ilefs) rs1555216730
NM_025114.3(CEP290):c.2683T>C (p.Ser895Pro) rs1555216720
NM_025114.3(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
NM_025114.3(CEP290):c.2708T>G (p.Leu903Ter)
NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.3(CEP290):c.2738_2742del (p.Glu913Glyfs) rs1565876618
NM_025114.3(CEP290):c.2817+4C>T rs768895932
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.3(CEP290):c.2969delC (p.Thr990Lysfs) rs1064793733
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3012delA (p.Glu1005Asnfs) rs1555213204
NM_025114.3(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.3(CEP290):c.3102A>G (p.Leu1034=) rs201160801
NM_025114.3(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.3(CEP290):c.3123dup (p.Lys1042Terfs) rs1555212271
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176dupT (p.Thr1060Asnfs) rs62640571
NM_025114.3(CEP290):c.3190delA (p.Met1064Terfs) rs786205620
NM_025114.3(CEP290):c.3240T>C (p.Tyr1080=) rs886042467
NM_025114.3(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.3(CEP290):c.3385G>A (p.Ala1129Thr) rs71454116
NM_025114.3(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.3(CEP290):c.3461+1G>A rs766952056
NM_025114.3(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.3(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.3(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
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.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.379A>C (p.Lys127Gln)
NM_025114.3(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.3829_3830delGCinsCT (p.Ala1277Leu) rs1565845877
NM_025114.3(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.3(CEP290):c.3943G>T (p.Glu1315Ter) rs886042020
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.3962T>C (p.Met1321Thr) rs1346175871
NM_025114.3(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.3(CEP290):c.4031T>C (p.Val1344Ala) rs369227219
NM_025114.3(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4115_4116delTA (p.Ile1372Lysfs) rs62640582
NM_025114.3(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4257dupC (p.Ile1420Hisfs) rs1555208180
NM_025114.3(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679
NM_025114.3(CEP290):c.437delA (p.Glu146Glyfs) rs1452465499
NM_025114.3(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4510G>A (p.Glu1504Lys) rs886043748
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4654_4659del (p.Lys1552_Glu1553del) rs1555207186
NM_025114.3(CEP290):c.4656delA (p.Glu1553Lysfs) rs62640572
NM_025114.3(CEP290):c.4704+16A>G rs559388032
NM_025114.3(CEP290):c.4704+1G>T rs1565835538
NM_025114.3(CEP290):c.4705-1G>T rs777464278
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4732G>T (p.Glu1578Ter) rs62640573
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.4C>T (p.Pro2Ser) rs1064795491
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.5013-7A>C rs762217156
NM_025114.3(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.3(CEP290):c.514A>C (p.Lys172Gln) rs765944337
NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.3(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
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.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5424T>C (p.Ser1808=) rs62640575
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5515_5518delGAGA (p.Glu1839Lysfs) rs281865187
NM_025114.3(CEP290):c.551A>G (p.Gln184Arg) rs374752439
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) rs281865188
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.5859C>T (p.Ala1953=) rs727503852
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.5973G>C (p.Lys1991Asn) rs1064795773
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6023C>T (p.Ala2008Val) rs376307540
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.3(CEP290):c.6135+2T>A rs1555200648
NM_025114.3(CEP290):c.6191A>G (p.Glu2064Gly)
NM_025114.3(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.6331C>T (p.Gln2111Ter) rs62640577
NM_025114.3(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.6523-6T>C rs794727692
NM_025114.3(CEP290):c.6558T>G (p.His2186Gln) rs772603458
NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs) rs758329611
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6646-11T>G rs1431021703
NM_025114.3(CEP290):c.6720A>G (p.Gln2240=) rs751895513
NM_025114.3(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.679_680delGA (p.Glu227Serfs) rs62640578
NM_025114.3(CEP290):c.6960+10G>C rs75011402
NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025114.3(CEP290):c.7062_7063delGA (p.Lys2355Serfs) rs886042734
NM_025114.3(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378
NM_025114.3(CEP290):c.7075A>C (p.Ile2359Leu)
NM_025114.3(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.3(CEP290):c.7197G>A (p.Lys2399=) rs779550219
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.722A>G (p.Lys241Arg) rs199790246
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.852+3A>G rs1555225551
NM_025114.3(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_025114.3(CEP290):c.943-8A>T rs200729812
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.3(CEP290):c.970A>G (p.Ile324Val) rs1555224610
NM_025114.3:c.4028delA rs1213286417

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