ClinVar Miner

List of variants in gene CEP290 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
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.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
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.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
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.297+36A>G rs45468703 0.02898
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
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.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.2817+48A>G rs76460170 0.01228
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
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.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.2991+39A>G rs147626659 0.00519
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.7034+40T>A rs184044181 0.00232
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
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.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.2368-36T>G rs547843877 0.00108
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
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.5013-21A>G rs368215443 0.00066
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.2306T>C (p.Ile769Thr) rs199583200 0.00055
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.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 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.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 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.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
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.4360G>A (p.Glu1454Lys) rs369902368 0.00018
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.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00014
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 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.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
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.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00007
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3310-48C>A rs764488172 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg) rs759047003 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 0.00002
NM_025114.4(CEP290):c.3056A>G (p.Glu1019Gly) rs746666486 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00002
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00002
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1712-6A>G rs1452155200 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.181-9A>G rs745494615 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00001
NM_025114.4(CEP290):c.2052+27T>C rs748630707 0.00001
NM_025114.4(CEP290):c.2053-5G>T rs764694042 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 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.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.669+8G>T rs768408897 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.103-30_103-24del
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
NM_025114.4(CEP290):c.1081G>T (p.Asp361Tyr)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1712-4A>G
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2483+7G>T rs886038692
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-8G>T
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+28G>C rs886038693
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.2554C>A (p.Gln852Lys) rs886038694
NM_025114.4(CEP290):c.2586T>C (p.Asn862=) rs886038695
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
NM_025114.4(CEP290):c.298-10T>C
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=)
NM_025114.4(CEP290):c.3634C>A (p.Leu1212Met)
NM_025114.4(CEP290):c.3670A>G (p.Ile1224Val)
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
NM_025114.4(CEP290):c.3808C>G (p.Leu1270Val)
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4050A>C (p.Lys1350Asn)
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
NM_025114.4(CEP290):c.4194+8T>G
NM_025114.4(CEP290):c.4271A>C (p.Gln1424Pro)
NM_025114.4(CEP290):c.4302+15T>C rs886038696
NM_025114.4(CEP290):c.4303-7T>C
NM_025114.4(CEP290):c.4343C>T (p.Pro1448Leu)
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=)
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4631A>T (p.Asn1544Ile)
NM_025114.4(CEP290):c.4661A>T (p.Glu1554Val)
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4704+46del rs11356711
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5056G>C (p.Glu1686Gln)
NM_025114.4(CEP290):c.5226+6T>G
NM_025114.4(CEP290):c.5226+6_5226+7insGG
NM_025114.4(CEP290):c.5226+7_5226+8insC
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys)
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=)
NM_025114.4(CEP290):c.6012-10T>A
NM_025114.4(CEP290):c.6012-5C>A
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6538C>G (p.Leu2180Val)
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
NM_025114.4(CEP290):c.6819-34G>T rs750838874
NM_025114.4(CEP290):c.6857T>C (p.Ile2286Thr)
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.739G>T (p.Val247Leu)
NM_025114.4(CEP290):c.76G>A (p.Asp26Asn)
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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