ClinVar Miner

List of variants in gene CEP290 studied for CEP290-related disorder

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 579
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00231
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00200
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.3654T>C (p.Leu1218=) rs201838492 0.00133
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 0.00057
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00053
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00032
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.2615C>T (p.Ser872Leu) rs373341530 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
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.2991+1655A>G rs281865192 0.00028
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 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.6628C>T (p.Arg2210Cys) rs374852145 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00021
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 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.853-9G>A rs974759127 0.00019
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_025114.4(CEP290):c.853G>A (p.Val285Met) rs555462587 0.00017
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 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.5998A>G (p.Ile2000Val) rs183071230 0.00015
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00013
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 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.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00012
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
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.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg) rs746874509 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
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.6572A>T (p.His2191Leu) rs368428115 0.00010
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys) rs373711746 0.00010
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00010
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg) rs377142184 0.00007
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu) rs752253318 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5227-9A>G rs571981633 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.3486C>T (p.Ala1162=) rs376583223 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 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.5186G>A (p.Arg1729Gln) rs535531689 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.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00005
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.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.6645+1G>A rs201218801 0.00005
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00005
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln) rs769274354 0.00004
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys) rs776053422 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 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.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.4963A>C (p.Arg1655=) rs1161295348 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00003
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00003
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile) rs369231584 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.2723G>A (p.Arg908Gln) rs369746468 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4356A>G (p.Gln1452=) rs756607245 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe) rs1264789609 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5570T>C (p.Leu1857Pro) rs1485169564 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00003
NM_025114.4(CEP290):c.6012-10T>A rs370345329 0.00003
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00003
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp) rs771123241 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.105G>A (p.Val35=) rs371969282 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 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.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=) rs911134690 0.00002
NM_025114.4(CEP290):c.3056A>G (p.Glu1019Gly) rs746666486 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 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.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4631A>T (p.Asn1544Ile) rs778141154 0.00002
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg) rs375246057 0.00002
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558 0.00002
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00002
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 0.00001
NM_025114.4(CEP290):c.103-17C>T rs976920583 0.00001
NM_025114.4(CEP290):c.1038T>G (p.Asp346Glu) rs372923864 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile) rs886648506 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg) rs750012169 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu) rs1046797710 0.00001
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr) rs771224749 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00001
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile) rs1231028240 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1523-7A>G rs1413722193 0.00001
NM_025114.4(CEP290):c.1554T>A (p.Thr518=) rs767529344 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 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.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1894A>G (p.Lys632Glu) rs1213124542 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.2132G>C (p.Arg711Thr) rs745530399 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.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00001
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278 0.00001
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 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.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.2712A>G (p.Val904=) rs1371763035 0.00001
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys) rs747065944 0.00001
NM_025114.4(CEP290):c.2817+4C>T rs768895932 0.00001
NM_025114.4(CEP290):c.291A>G (p.Glu97=) rs757402765 0.00001
NM_025114.4(CEP290):c.2929A>C (p.Arg977=) rs765840717 0.00001
NM_025114.4(CEP290):c.2992-1G>T rs2037480294 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=) rs376027433 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.3342G>A (p.Val1114=) rs754811220 0.00001
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3461+8C>T rs1370236429 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3633A>G (p.Gln1211=) rs747474049 0.00001
NM_025114.4(CEP290):c.3634C>A (p.Leu1212Met) rs199844833 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.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 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.4303-7T>C rs368961895 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00001
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile) rs769989974 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=) rs2036436821 0.00001
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu) rs767548455 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.4813-4A>G rs2036324053 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu) rs766917802 0.00001
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=) rs1273165449 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys) rs377143954 0.00001
NM_025114.4(CEP290):c.5056G>C (p.Glu1686Gln) rs377143954 0.00001
NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val) rs754184488 0.00001
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter) rs771864158 0.00001
NM_025114.4(CEP290):c.516+1G>A rs779409629 0.00001
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=) rs1367796637 0.00001
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00001
NM_025114.4(CEP290):c.5364+3G>A rs747450920 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val) rs756097381 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=) rs2035355059 0.00001
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln) rs547665147 0.00001
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg) rs750473077 0.00001
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu) rs759220460 0.00001
NM_025114.4(CEP290):c.6645+7C>T rs762527255 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.6857T>C (p.Ile2286Thr) rs991777856 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00001
NC_000012.11:g.(88500876_88502842)_(88505636_88508196)del
NC_000012.11:g.(88514944_88519022)_(88524343_88524941)del
NM_025114.4(CEP290):c.-34G>A
NM_025114.4(CEP290):c.-9G>A
NM_025114.4(CEP290):c.1007A>G (p.Glu336Gly)
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.103-23C>T
NM_025114.4(CEP290):c.103-30_103-24del rs2501854888
NM_025114.4(CEP290):c.1038T>C (p.Asp346=)
NM_025114.4(CEP290):c.104T>G (p.Val35Gly) rs2501853647
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser) rs1206964618
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1081G>T (p.Asp361Tyr) rs999155745
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1217A>C (p.His406Pro)
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1250A>T (p.Lys417Ile)
NM_025114.4(CEP290):c.127G>A (p.Glu43Lys)
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu) rs772635605
NM_025114.4(CEP290):c.1516del (p.Arg506fs) rs2501035965
NM_025114.4(CEP290):c.1523-404T>G
NM_025114.4(CEP290):c.1523-411G>A
NM_025114.4(CEP290):c.1556A>T (p.Glu519Val)
NM_025114.4(CEP290):c.1636G>A (p.Glu546Lys)
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1712-4A>G rs1207619750
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.1763G>T (p.Arg588Ile)
NM_025114.4(CEP290):c.1814C>A (p.Ala605Glu)
NM_025114.4(CEP290):c.1824+1G>A rs2500865783
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1839A>G (p.Ser613=)
NM_025114.4(CEP290):c.1873A>G (p.Arg625Gly)
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-8A>G
NM_025114.4(CEP290):c.1998T>C (p.Asp666=) rs376320828
NM_025114.4(CEP290):c.2028C>T (p.Ile676=)
NM_025114.4(CEP290):c.2031T>C (p.Pro677=)
NM_025114.4(CEP290):c.2034C>T (p.Ser678=)
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
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.2112_2120del (p.Val705_Gln707del)
NM_025114.4(CEP290):c.215A>C (p.Glu72Ala)
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2248T>C (p.Leu750=)
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2265A>T (p.Gly755=)
NM_025114.4(CEP290):c.2269A>G (p.Asn757Asp)
NM_025114.4(CEP290):c.2287A>C (p.Ile763Leu)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2396A>G (p.Lys799Arg) rs2500683852
NM_025114.4(CEP290):c.2416G>A (p.Glu806Lys)
NM_025114.4(CEP290):c.2454A>G (p.Gln818=)
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn) rs761233532
NM_025114.4(CEP290):c.2484-8G>T rs1436691712
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486
NM_025114.4(CEP290):c.2491G>A (p.Glu831Lys)
NM_025114.4(CEP290):c.2493G>T (p.Glu831Asp)
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.251-4dup rs759170743
NM_025114.4(CEP290):c.2561A>G (p.Asp854Gly)
NM_025114.4(CEP290):c.2575A>G (p.Lys859Glu)
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2673G>A (p.Val891=) rs200156425
NM_025114.4(CEP290):c.2674A>G (p.Asn892Asp)
NM_025114.4(CEP290):c.270_274del (p.Lys90fs) rs1027368517
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.2762TGT[1] (p.Leu922del)
NM_025114.4(CEP290):c.2811A>G (p.Arg937=)
NM_025114.4(CEP290):c.28A>G (p.Ile10Val)
NM_025114.4(CEP290):c.2920G>A (p.Ala974Thr)
NM_025114.4(CEP290):c.2935A>G (p.Ile979Val)
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.298-10T>C rs2040377052
NM_025114.4(CEP290):c.2991+1660T>C
NM_025114.4(CEP290):c.2992-2A>T rs2037480406
NM_025114.4(CEP290):c.3095C>A (p.Thr1032Asn)
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val) rs771815959
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.323G>A (p.Arg108Gln)
NM_025114.4(CEP290):c.3241G>A (p.Glu1081Lys)
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
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.3278G>A (p.Arg1093His)
NM_025114.4(CEP290):c.3398C>A (p.Ala1133Asp)
NM_025114.4(CEP290):c.3494A>G (p.Gln1165Arg)
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3516A>G (p.Gln1172=)
NM_025114.4(CEP290):c.3569A>C (p.Tyr1190Ser)
NM_025114.4(CEP290):c.3573+7G>A
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3575C>G (p.Ala1192Gly)
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.3610C>T (p.His1204Tyr)
NM_025114.4(CEP290):c.3670A>G (p.Ile1224Val) rs1022942488
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103
NM_025114.4(CEP290):c.3705C>T (p.Asn1235=)
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys) rs2040371663
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys) rs1222421581
NM_025114.4(CEP290):c.3808C>G (p.Leu1270Val) rs776991513
NM_025114.4(CEP290):c.3812G>A (p.Arg1271Gln)
NM_025114.4(CEP290):c.382G>A (p.Asp128Asn)
NM_025114.4(CEP290):c.382G>C (p.Asp128His) rs755112866
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3903G>T (p.Met1301Ile)
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=) rs2500101041
NM_025114.4(CEP290):c.3917del (p.Asn1306fs) rs2036817502
NM_025114.4(CEP290):c.3934A>G (p.Arg1312Gly)
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys) rs1361449401
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.4050A>C (p.Lys1350Asn) rs763469027
NM_025114.4(CEP290):c.4078A>C (p.Lys1360Gln)
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu) rs188502327
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4096G>C (p.Val1366Leu)
NM_025114.4(CEP290):c.4194+6A>G
NM_025114.4(CEP290):c.4194+8T>G rs1203422704
NM_025114.4(CEP290):c.4211A>G (p.Gln1404Arg)
NM_025114.4(CEP290):c.4250A>C (p.Gln1417Pro)
NM_025114.4(CEP290):c.4266C>T (p.Asp1422=)
NM_025114.4(CEP290):c.4271A>C (p.Gln1424Pro) rs1238040214
NM_025114.4(CEP290):c.4305T>A (p.Phe1435Leu)
NM_025114.4(CEP290):c.4343C>T (p.Pro1448Leu) rs757356455
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.442-12_442-3del
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala) rs2036458518
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe) rs1162631374
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His) rs1410895455
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4661A>T (p.Glu1554Val) rs756946490
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+24T>G
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506
NM_025114.4(CEP290):c.4891G>A (p.Ala1631Thr)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5003T>C (p.Ile1668Thr)
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5117del (p.Ser1706fs)
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu) rs1241267572
NM_025114.4(CEP290):c.516+6G>A
NM_025114.4(CEP290):c.516+8T>G
NM_025114.4(CEP290):c.5174A>G (p.Asn1725Ser)
NM_025114.4(CEP290):c.5187G>T (p.Arg1729=)
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del) rs1565826928
NM_025114.4(CEP290):c.5226+6T>G rs772322005
NM_025114.4(CEP290):c.5226+6_5226+7insGG rs2499906848
NM_025114.4(CEP290):c.5226+7_5226+8insC rs2036089498
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5261A>G (p.Glu1754Gly)
NM_025114.4(CEP290):c.5337C>G (p.Ile1779Met)
NM_025114.4(CEP290):c.5358G>A (p.Glu1786=)
NM_025114.4(CEP290):c.5402T>G (p.Leu1801Trp)
NM_025114.4(CEP290):c.5408A>G (p.Glu1803Gly)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer) rs2499860162
NM_025114.4(CEP290):c.542T>C (p.Ile181Thr)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg) rs2035892171
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.5587G>A (p.Gly1863Ser)
NM_025114.4(CEP290):c.5609A>G (p.Lys1870Arg)
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5639A>C (p.Lys1880Thr)
NM_025114.4(CEP290):c.5661A>G (p.Gln1887=)
NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys) rs1296048545
NM_025114.4(CEP290):c.5709+4T>G
NM_025114.4(CEP290):c.5710-284A>G
NM_025114.4(CEP290):c.5726T>G (p.Leu1909Ter) rs2499745673
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5803del (p.Glu1935fs) rs766285443
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys) rs763345078
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5903G>T (p.Gly1968Val)
NM_025114.4(CEP290):c.5914G>C (p.Asp1972His)
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter) rs1014354752
NM_025114.4(CEP290):c.5968A>G (p.Lys1990Glu)
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=) rs1181495089
NM_025114.4(CEP290):c.6012-5C>A rs2499678725
NM_025114.4(CEP290):c.6130C>A (p.Pro2044Thr)
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.6146T>C (p.Ile2049Thr)
NM_025114.4(CEP290):c.6202T>G (p.Leu2068Val)
NM_025114.4(CEP290):c.6209C>A (p.Ser2070Tyr) rs1189095461
NM_025114.4(CEP290):c.6358-17_6358-10del rs2034440499
NM_025114.4(CEP290):c.635A>G (p.Asn212Ser)
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys) rs1323758514
NM_025114.4(CEP290):c.6447del (p.Glu2149fs) rs1157238971
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.6488T>C (p.Met2163Thr)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6538C>G (p.Leu2180Val) rs1381853150
NM_025114.4(CEP290):c.6567C>T (p.Ser2189=)
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln) rs1316821873
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6645A>G (p.Lys2215=)
NM_025114.4(CEP290):c.6696A>G (p.Ile2232Met)
NM_025114.4(CEP290):c.670-10A>G
NM_025114.4(CEP290):c.672T>G (p.Thr224=)
NM_025114.4(CEP290):c.6819-3T>C
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys) rs2136656497
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6903A>G (p.Lys2301=)
NM_025114.4(CEP290):c.6931A>C (p.Asn2311His)
NM_025114.4(CEP290):c.694A>G (p.Ile232Val)
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.7014A>G (p.Lys2338=)
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr) rs767697315
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter) rs878896889
NM_025114.4(CEP290):c.7088A>T (p.Glu2363Val)
NM_025114.4(CEP290):c.7095C>A (p.Asn2365Lys)
NM_025114.4(CEP290):c.709C>G (p.Gln237Glu)
NM_025114.4(CEP290):c.7109G>A (p.Gly2370Glu)
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=) rs766938807
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7156_7158del (p.Lys2386del)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del rs779880515
NM_025114.4(CEP290):c.739G>T (p.Val247Leu) rs1409885182
NM_025114.4(CEP290):c.76G>A (p.Asp26Asn) rs2501863127
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.908T>C (p.Met303Thr)
NM_025114.4(CEP290):c.941del (p.Lys314fs)
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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