ClinVar Miner

List of variants in gene CEP290

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 505
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HGVS dbSNP
CEP290, 1-BP DEL, 4656A
CEP290, 1-BP DEL, 5489A
CEP290, 4-BP DEL, 384TAGA
CEP290, 5-BP DEL
CEP290, 5-BP DEL, 1260TAAAG
CEP290, EX3, T-A, +2
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
GRCh37/hg19 12q21.32(chr12:88485224-88505633)x1
NC_000012.12:g.88054551T>A
NC_000012.12:g.88055319A>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.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.88111559T>A
NC_000012.12:g.88116952A>C
NC_000012.12:g.88117018A>G
NC_000012.12:g.88118475G>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.88139284T>C
NC_000012.12:g.88141390T>G
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-28+15G>A rs1555230267
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.103-1G>T rs863225188
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.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.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1360-4T>G rs200328638
NM_025114.3(CEP290):c.1384G>A (p.Val462Ile) rs374199052
NM_025114.3(CEP290):c.1386C>T (p.Val462=) rs886038689
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.1392_1393insCTACTTA (p.Ile465Leufs) rs1565900023
NM_025114.3(CEP290):c.1419_1423del (p.Ile474Argfs) rs771266705
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1455A>G (p.Glu485=) rs755893750
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1517G>A (p.Arg506His) rs866571949
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.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.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1623+1G>A rs863225186
NM_025114.3(CEP290):c.1623+5G>A rs1555222073
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) rs727503855
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.3(CEP290):c.1669C>T (p.Arg557Cys) rs561018129
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.1680T>C (p.Ala560=) rs777669368
NM_025114.3(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.3(CEP290):c.1711+1G>A rs587783009
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.180+1G>A rs758593134
NM_025114.3(CEP290):c.180+2T>A rs386834150
NM_025114.3(CEP290):c.181-1G>T rs281865190
NM_025114.3(CEP290):c.181-2A>G rs886042359
NM_025114.3(CEP290):c.1824+16dupT rs746448124
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.1825-8T>G rs769405843
NM_025114.3(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) rs386834151
NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) rs766608755
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1910-11T>G rs1555220638
NM_025114.3(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
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.2016A>G (p.Thr672=) rs886038690
NM_025114.3(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.3(CEP290):c.2052+17A>G rs886038691
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2052+27T>C rs748630707
NM_025114.3(CEP290):c.2052+30delT rs11358611
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.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.2118_2122dupTCAGC (p.Thr709Serfs) rs62640580
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.2183A>G (p.Asn728Ser) rs752513342
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.2217+45T>C rs45461003
NM_025114.3(CEP290):c.2217+6A>G rs139027723
NM_025114.3(CEP290):c.2218-4_2222del rs281865193
NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) rs587783010
NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) rs137852833
NM_025114.3(CEP290):c.2251C>T (p.Arg751Ter)
NM_025114.3(CEP290):c.2268G= (p.Ser756=) rs2468255
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.2317dup (p.Ser773Lysfs) rs1555218898
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2368-36T>G rs547843877
NM_025114.3(CEP290):c.2368-37T>G rs115837670
NM_025114.3(CEP290):c.2390delA (p.Lys797Serfs) rs781670422
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys)
NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys)
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val)
NM_025114.3(CEP290):c.2483+7G>T rs886038692
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.250+28G>C rs886038693
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.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2554C>A (p.Gln852Lys) rs886038694
NM_025114.3(CEP290):c.2586T>C (p.Asn862=) rs886038695
NM_025114.3(CEP290):c.2587-19T>C rs755086278
NM_025114.3(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
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.2691A>G (p.Ile897Met)
NM_025114.3(CEP290):c.2708T>G (p.Leu903Ter)
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
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+48A>G rs76460170
NM_025114.3(CEP290):c.2817+4C>T rs768895932
NM_025114.3(CEP290):c.2818-50G>C rs2471532
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.3(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.3(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.3(CEP290):c.2969delC (p.Thr990Lysfs) rs1064793733
NM_025114.3(CEP290):c.297+1G>T rs878853360
NM_025114.3(CEP290):c.297+36A>G rs45468703
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.2991+39A>G rs147626659
NM_025114.3(CEP290):c.3012delA (p.Glu1005Asnfs) rs1555213204
NM_025114.3(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
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.3104-2A>G rs773386777
NM_025114.3(CEP290):c.3104-5T>G
NM_025114.3(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.3(CEP290):c.3123dup (p.Lys1042Terfs) rs1555212271
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn)
NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) rs62640570
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3176dupT (p.Thr1060Asnfs) rs62640571
NM_025114.3(CEP290):c.3181_3182delAT (p.Met1061Alafs) rs878853362
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
NM_025114.3(CEP290):c.3190delA (p.Met1064Terfs) rs786205620
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
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.3273G>A (p.Glu1091=) rs771584252
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.3310-16dup rs1555211687
NM_025114.3(CEP290):c.3310-48C>A rs764488172
NM_025114.3(CEP290):c.3342G>A (p.Val1114=) rs754811220
NM_025114.3(CEP290):c.3385G>A (p.Ala1129Thr) rs71454116
NM_025114.3(CEP290):c.3408A>G (p.Gln1136=) rs11836796
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.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) rs386834155
NM_025114.3(CEP290):c.3461+1G>A rs766952056
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.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3574-9T>G rs202038547
NM_025114.3(CEP290):c.3574-9delT rs10717563
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.3626C>G (p.Ser1209Cys) rs753350609
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.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.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.379A>C (p.Lys127Gln)
NM_025114.3(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) rs386834156
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.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.3904C>T (p.Gln1302Ter) rs587783016
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.3950A>C (p.Lys1317Thr) rs778137534
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.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
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.4115_4116delTA (p.Ile1372Lysfs) rs62640582
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4159dup (p.Ser1387Lysfs) rs1555208870
NM_025114.3(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
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.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.4302+15T>C rs886038696
NM_025114.3(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679
NM_025114.3(CEP290):c.437delA (p.Glu146Glyfs) rs1452465499
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.442-19T>A rs113132803
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4441C>T (p.Leu1481=) rs1220385672
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.4476A>G (p.Glu1492=) rs181248369
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.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4621del (p.Thr1541Profs) rs587779733
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.4704+46delT rs11356711
NM_025114.3(CEP290):c.4705-18C>T rs199751805
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.4741C>T (p.Leu1581Phe) rs11831931
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
NM_025114.3(CEP290):c.4801C>T (p.Gln1601Ter) rs878853361
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4811G>A (p.Trp1604Ter) rs886039808
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
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.4960C>T (p.Gln1654Ter) rs1226324483
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.4C>T (p.Pro2Ser) rs1064795491
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.5013-21A>G rs368215443
NM_025114.3(CEP290):c.5013-7A>C rs762217156
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
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.508A>T (p.Lys170Ter)
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
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.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
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.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5227-43G>A rs2468245
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.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5414del (p.Thr1807Glnfs)
NM_025114.3(CEP290):c.5424T>C (p.Ser1808=) rs62640575
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs) rs1565822519
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.5521G>A (p.Glu1841Lys) rs200158553
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-1G>C
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.563A>T (p.Asp188Val) rs746511786
NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) rs281865188
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5707A>T (p.Glu1903Ter) rs878855334
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5709+18C>A rs7973969
NM_025114.3(CEP290):c.5709+25A>C rs17015438
NM_025114.3(CEP290):c.5709+45G>C rs45477793
NM_025114.3(CEP290):c.5710-3C>G rs1555202126
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs) rs751361090
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
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.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_025114.3(CEP290):c.5859C>T (p.Ala1953=) rs727503852
NM_025114.3(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
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.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6092C>A (p.Ala2031Asp) rs1057522651
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.6136-19T>G rs377613416
NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.3(CEP290):c.6145A>G (p.Ile2049Val) rs750355861
NM_025114.3(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.3(CEP290):c.6191A>G (p.Glu2064Gly)
NM_025114.3(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119
NM_025114.3(CEP290):c.6270+18delT rs371141771
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.6331C>T (p.Gln2111Ter) rs62640577
NM_025114.3(CEP290):c.6336G>T (p.Arg2112=) rs1475220538
NM_025114.3(CEP290):c.6357+20A>T rs7971699
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6358-4G>A rs369154492
NM_025114.3(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
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.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.6523-6T>C rs794727692
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
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.6646-16T>C rs367543543
NM_025114.3(CEP290):c.6720A>G (p.Gln2240=) rs751895513
NM_025114.3(CEP290):c.673_674del (p.Leu225Asnfs) rs886039805
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.6819-34G>T rs750838874
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.6871C>T (p.Gln2291Ter)
NM_025114.3(CEP290):c.6882T>C (p.Thr2294=) rs759290213
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.3(CEP290):c.6960+10G>A rs75011402
NM_025114.3(CEP290):c.6960+10G>C rs75011402
NM_025114.3(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.7034+10G>A rs1057522783
NM_025114.3(CEP290):c.7034+40T>A rs184044181
NM_025114.3(CEP290):c.7035-38C>G rs45477492
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.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7197G>A (p.Lys2399=) rs779550219
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.722A>G (p.Lys241Arg) rs199790246
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.852+3A>G rs1555225551
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_025114.3(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.3(CEP290):c.942+28T>C rs56149649
NM_025114.3(CEP290):c.942+6T>G rs886049884
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(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.6447delA rs1157238971
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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