ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for Leber congenital amaurosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
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.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
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.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.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.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.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.7075A>C (p.Ile2359Leu) rs183387506 0.00014
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.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.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.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
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.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
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.5227-9A>G rs571981633 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 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.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
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.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 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.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
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.1877G>A (p.Ser626Asn) rs746124813 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 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.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 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.1677G>C (p.Met559Ile) rs1000099371 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 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.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 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.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His) rs1030787885 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 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.3853A>G (p.Lys1285Glu) rs765521933 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.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.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 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.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val) rs2039364974
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly) rs777867610
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys) rs368427967
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
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.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val) rs2038667289
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys) rs2038497441
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2670A>C (p.Gln890His) rs2038316964
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2946A>T (p.Lys982Asn) rs2037999495
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=) rs2037475960
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
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.328A>G (p.Thr110Ala) rs750018041
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=) rs2036843900
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp) rs2035405223
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr) rs1178644600
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp) rs2039987503
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln) rs1316821873
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
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.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.92C>T (p.Ser31Phe) rs1378106199
NM_025114.4(CEP290):c.984G>C (p.Gln328His) rs776256270

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.