ClinVar Miner

List of variants in gene CEP290 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 371
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6960+257T>C rs2468242 0.92704
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_025114.4(CEP290):c.4195-348C>T rs2468249 0.89010
NM_025114.4(CEP290):c.943-213G>A rs2471521 0.87693
NM_025114.4(CEP290):c.1066-255T>C rs2468260 0.87677
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_025114.4(CEP290):c.1824+368T>G rs2960425 0.76923
NM_025114.4(CEP290):c.4704+281G>A rs2468248 0.76918
NM_025114.4(CEP290):c.942+271A>G rs2471520 0.76896
NM_025114.4(CEP290):c.-28+101C>T rs2468222 0.74729
NM_025114.4(CEP290):c.2991+1897G>A rs2471534 0.50509
NM_025114.4(CEP290):c.-27-188dup rs71082427 0.50493
NM_025114.4(CEP290):c.2991+205T>C rs10466971 0.30254
NM_025114.4(CEP290):c.6646-275T>C rs12426625 0.13876
NM_025114.4(CEP290):c.6961-138A>T rs17418744 0.12927
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.5227-301A>C rs59247112 0.10763
NM_025114.4(CEP290):c.1824+81T>G rs190820871 0.10429
NM_025114.4(CEP290):c.496-269G>T rs7310461 0.09932
NM_025114.4(CEP290):c.2217+135A>T rs78143067 0.09910
NM_025114.4(CEP290):c.4705-257A>G rs11104732 0.08006
NM_025114.4(CEP290):c.1360-65A>T rs11104741 0.07517
NM_025114.4(CEP290):c.1189+257A>C rs28393959 0.07511
NM_025114.4(CEP290):c.6645+184T>A rs73207079 0.07320
NM_025114.4(CEP290):c.6960+64A>G rs76663684 0.05574
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.1910-207G>A rs7952847 0.05378
NM_025114.4(CEP290):c.2052+268A>G rs60380764 0.05370
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.5587-98A>G rs7960861 0.05359
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_025114.4(CEP290):c.7130-129A>G rs59691324 0.04347
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.3309+225T>G rs76560287 0.04257
NM_025114.4(CEP290):c.442-85C>T rs115764060 0.04025
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_025114.4(CEP290):c.3573+187C>A rs112112148 0.03946
NM_025114.4(CEP290):c.2483+226G>A rs79549870 0.03740
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_025114.4(CEP290):c.4704+314A>T rs17015443 0.03598
NM_025114.4(CEP290):c.1066-200A>G rs17335506 0.02972
NM_025114.4(CEP290):c.5012+142A>G rs78015808 0.02918
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_025114.4(CEP290):c.1189+91T>C rs116707638 0.02525
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025114.4(CEP290):c.670-116A>G rs77623866 0.02275
NM_025114.4(CEP290):c.6270+248T>C rs117508700 0.02206
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_025114.4(CEP290):c.3462-286A>G rs77707234 0.01976
NM_025114.4(CEP290):c.-27-56A>C rs28636672 0.01737
NM_025114.4(CEP290):c.3573+318A>G rs116467530 0.01635
NM_025114.4(CEP290):c.6136-254G>C rs80192319 0.01609
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.181-249G>A rs116692715 0.01505
NM_025114.4(CEP290):c.251-93A>G rs111437173 0.01295
NM_025114.4(CEP290):c.2817+48A>G rs76460170 0.01228
NM_025114.4(CEP290):c.298-301C>T rs80213495 0.01225
NM_025114.4(CEP290):c.7035-140T>C rs150353864 0.01189
NM_025114.4(CEP290):c.2991+208A>G rs114745585 0.01111
NM_025114.4(CEP290):c.4437+324T>G rs115578573 0.00920
NM_025114.4(CEP290):c.181-288G>A rs141907559 0.00896
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_025114.4(CEP290):c.4195-340G>A rs115471416 0.00825
NM_025114.4(CEP290):c.7034+275G>A rs74338819 0.00821
NM_025114.4(CEP290):c.5710-159C>T rs115166743 0.00820
NM_025114.4(CEP290):c.6358-291C>A rs114526714 0.00819
NM_025114.4(CEP290):c.7130-73G>A rs114725040 0.00819
NM_025114.4(CEP290):c.1909+179G>C rs75511160 0.00817
NM_025114.4(CEP290):c.3462-215A>G rs77508014 0.00817
NM_025114.4(CEP290):c.6011+160_6011+161insAT rs145898720 0.00817
NM_025114.4(CEP290):c.2367+63G>A rs75731877 0.00816
NM_025114.4(CEP290):c.442-250T>C rs143450226 0.00816
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.6645+211C>T rs142591645 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.4195-341C>T rs149499240 0.00735
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.6136-109C>T rs76564263 0.00681
NM_025114.4(CEP290):c.4438-253C>T rs75939111 0.00680
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_025114.4(CEP290):c.2217+45T>C rs45461003 0.00636
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.853-197C>G rs147937851 0.00584
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.1824+72C>T rs565542317 0.00565
NM_025114.4(CEP290):c.853-276A>G rs12298094 0.00527
NM_025114.4(CEP290):c.2991+39A>G rs147626659 0.00519
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.1523-162G>A rs138019050 0.00479
NM_025114.4(CEP290):c.5226+231C>T rs146237577 0.00479
NM_025114.4(CEP290):c.6012-98C>T rs141714178 0.00466
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.7129+157T>C rs140267645 0.00462
NM_025114.4(CEP290):c.180+181A>G rs115165018 0.00460
NM_025114.4(CEP290):c.3573+227C>T rs148047873 0.00432
NM_025114.4(CEP290):c.1825-165G>A rs115517765 0.00408
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.1711+251T>G rs116932106 0.00378
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.6136-123G>A rs144023799 0.00345
NM_025114.4(CEP290):c.7129+105A>G rs114920093 0.00339
NM_025114.4(CEP290):c.1066-111C>T rs141158869 0.00335
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_025114.4(CEP290):c.496-118A>C rs114866189 0.00300
NM_025114.4(CEP290):c.496-195A>G rs76233478 0.00298
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.3573+215G>A rs374887934 0.00153
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00004
NM_025114.4(CEP290):c.2217+6A>G rs139027723 0.00004
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.4195-9T>C rs546957016 0.00003
NM_025114.4(CEP290):c.4704+16A>G rs559388032 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5570T>C (p.Leu1857Pro) rs1485169564 0.00003
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1824+15T>C rs999848467 0.00001
NM_025114.4(CEP290):c.192A>C (p.Gln64His) rs965922201 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3613C>A (p.Gln1205Lys) rs1240887746 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6145A>G (p.Ile2049Val) rs750355861 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.-28+15G>A rs1555230267
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1360-250_1360-249del rs536091919
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1522+58del rs202232715
NM_025114.4(CEP290):c.1655T>C (p.Leu552Pro) rs2039206485
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1824+39dup rs890305929
NM_025114.4(CEP290):c.1824+59del rs890305929
NM_025114.4(CEP290):c.1824+60G>T rs1351164770
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2138A>G (p.Glu713Gly) rs2137723121
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter) rs1206723575
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2484-151A>G
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-114_251-96del rs552449427
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.2515A>T (p.Thr839Ser) rs1227513489
NM_025114.4(CEP290):c.255T>A (p.Asn85Lys)
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter) rs1057517886
NM_025114.4(CEP290):c.2823G>A (p.Met941Ile) rs2137544228
NM_025114.4(CEP290):c.2856_2858del (p.Val953del)
NM_025114.4(CEP290):c.2953A>G (p.Met985Val) rs1160930595
NM_025114.4(CEP290):c.2969del (p.Thr990fs) rs1064793733
NM_025114.4(CEP290):c.297+3A>G
NM_025114.4(CEP290):c.298-144del rs112841615
NM_025114.4(CEP290):c.2991+1325C>G rs10858687
NM_025114.4(CEP290):c.2991+1333dup rs762783922
NM_025114.4(CEP290):c.2991+1356_2991+1357del rs762783922
NM_025114.4(CEP290):c.2991+1357del rs762783922
NM_025114.4(CEP290):c.2991+1358G>T rs1409280810
NM_025114.4(CEP290):c.2991+179CA[8] rs59853208
NM_025114.4(CEP290):c.2992-322G>A rs116110864
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly) rs2037480137
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter) rs1555213161
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3310-21dup rs1555211687
NM_025114.4(CEP290):c.3310-5C>A rs2137345196
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3574-257dup rs1185071952
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
NM_025114.4(CEP290):c.3943G>T (p.Glu1315Ter) rs886042020
NM_025114.4(CEP290):c.3944A>G (p.Glu1315Gly)
NM_025114.4(CEP290):c.3962T>C (p.Met1321Thr) rs1346175871
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.4(CEP290):c.39T>G (p.Val13=) rs2040642206
NM_025114.4(CEP290):c.4043A>C (p.His1348Pro) rs1285246761
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4195-215_4195-214insGATGGATGGATGGATA rs770390958
NM_025114.4(CEP290):c.4257dup (p.Ile1420fs) rs1555208180
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.442-54del rs59949315
NM_025114.4(CEP290):c.4437+72_4437+75del rs199937112
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.467A>G (p.Glu156Gly) rs2138113947
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4704+264del rs5799853
NM_025114.4(CEP290):c.4704+46del rs11356711
NM_025114.4(CEP290):c.4711A>G (p.Arg1571Gly)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.517-55G>A rs7309960
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr) rs2036093152
NM_025114.4(CEP290):c.5226+134T>C rs2468246
NM_025114.4(CEP290):c.5227-115_5227-113del rs150619947
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn) rs1064795773
NM_025114.4(CEP290):c.6092C>A (p.Ala2031Asp) rs1057522651
NM_025114.4(CEP290):c.6136-182dup rs11426323
NM_025114.4(CEP290):c.6230T>C (p.Phe2077Ser) rs2136813103
NM_025114.4(CEP290):c.6245C>T (p.Ala2082Val) rs767592034
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter) rs1555197766
NM_025114.4(CEP290):c.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.4(CEP290):c.6469A>G (p.Ile2157Val) rs2136749270
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
NM_025114.4(CEP290):c.7034+272C>A rs7980746
NM_025114.4(CEP290):c.7034+41dup rs201140440
NM_025114.4(CEP290):c.7129+73del rs372674637
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7198_7209del (p.Gln2400_Lys2403del)
NM_025114.4(CEP290):c.739_740del (p.Val247fs) rs1592671618
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.852+73A>G rs61265751
NM_025114.4(CEP290):c.853-127_853-125dup rs71082426
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)

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