ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00034
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 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.3660G>T (p.Lys1220Asn) rs201982308 0.00023
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
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.853G>A (p.Val285Met) rs555462587 0.00017
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00015
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00012
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 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.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu) rs752253318 0.00007
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.5186G>A (p.Arg1729Gln) rs535531689 0.00006
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00006
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 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.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 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.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 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.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 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.4910T>C (p.Leu1637Pro) rs368886655 0.00002
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.7071A>C (p.Glu2357Asp) rs774974014 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.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.1038T>G (p.Asp346Glu) rs372923864 0.00001
NM_025114.4(CEP290):c.1134G>A (p.Met378Ile) rs749566358 0.00001
NM_025114.4(CEP290):c.1331C>T (p.Ala444Val) rs1292015235 0.00001
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 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.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.2153A>C (p.Glu718Ala) rs756725320 0.00001
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe) rs751441268 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.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu) rs1327835175 0.00001
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro) rs763778682 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647 0.00001
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp) rs772060641 0.00001
NM_025114.4(CEP290):c.4294G>A (p.Ala1432Thr) rs747949998 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00001
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met) rs1026690396 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys) rs746576984 0.00001
NM_025114.4(CEP290):c.5085C>G (p.Asp1695Glu) rs747235813 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr) rs1565822715 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val) rs756097381 0.00001
NM_025114.4(CEP290):c.6022G>A (p.Ala2008Thr) rs2035127889 0.00001
NM_025114.4(CEP290):c.6386A>G (p.Glu2129Gly) rs1258832459 0.00001
NM_025114.4(CEP290):c.6417A>C (p.Lys2139Asn) rs543979340 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe) rs1344978851 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.934G>A (p.Glu312Lys) rs1191270790 0.00001
NM_025114.4(CEP290):c.990G>A (p.Met330Ile) rs1388365600 0.00001
NM_025114.4(CEP290):c.1103C>A (p.Thr368Asn) rs886648506
NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg) rs794727106
NM_025114.4(CEP290):c.1325T>C (p.Val442Ala) rs1238835456
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.181A>G (p.Met61Val)
NM_025114.4(CEP290):c.1874G>T (p.Arg625Met)
NM_025114.4(CEP290):c.1885G>C (p.Val629Leu)
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1925A>G (p.Glu642Gly)
NM_025114.4(CEP290):c.1951A>T (p.Met651Leu)
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2107G>A (p.Ala703Thr) rs2500765763
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp) rs750607382
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val) rs1278326023
NM_025114.4(CEP290):c.2396A>G (p.Lys799Arg) rs2500683852
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro) rs768448895
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn) rs761233532
NM_025114.4(CEP290):c.2542G>A (p.Glu848Lys) rs2500629967
NM_025114.4(CEP290):c.2893G>C (p.Ala965Pro)
NM_025114.4(CEP290):c.2893G>T (p.Ala965Ser) rs2038004685
NM_025114.4(CEP290):c.2933A>T (p.Asp978Val)
NM_025114.4(CEP290):c.3041T>C (p.Leu1014Pro) rs1340463039
NM_025114.4(CEP290):c.3106A>T (p.Asn1036Tyr)
NM_025114.4(CEP290):c.3128C>G (p.Ala1043Gly) rs2500282636
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp) rs780870106
NM_025114.4(CEP290):c.3410G>T (p.Arg1137Leu) rs774900495
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3608T>C (p.Leu1203Ser) rs2500119679
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr) rs1298290891
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr) rs2500115290
NM_025114.4(CEP290):c.3703A>C (p.Asn1235His)
NM_025114.4(CEP290):c.3812G>A (p.Arg1271Gln)
NM_025114.4(CEP290):c.3817C>A (p.Gln1273Lys)
NM_025114.4(CEP290):c.3829G>C (p.Ala1277Pro) rs757556647
NM_025114.4(CEP290):c.382G>C (p.Asp128His) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val) rs749710169
NM_025114.4(CEP290):c.3901A>G (p.Met1301Val)
NM_025114.4(CEP290):c.4078A>C (p.Lys1360Gln)
NM_025114.4(CEP290):c.4151G>T (p.Arg1384Leu)
NM_025114.4(CEP290):c.4205A>G (p.Glu1402Gly) rs2500019289
NM_025114.4(CEP290):c.4247G>A (p.Arg1416His) rs374582514
NM_025114.4(CEP290):c.4255G>C (p.Asp1419His)
NM_025114.4(CEP290):c.4258A>T (p.Ile1420Phe) rs2500017097
NM_025114.4(CEP290):c.4330G>A (p.Asp1444Asn) rs2500010947
NM_025114.4(CEP290):c.4345C>G (p.Leu1449Val) rs2500010374
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe) rs1162631374
NM_025114.4(CEP290):c.452G>C (p.Arg151Pro)
NM_025114.4(CEP290):c.4739A>G (p.Asp1580Gly) rs2499973816
NM_025114.4(CEP290):c.4793A>C (p.Lys1598Thr)
NM_025114.4(CEP290):c.496-62_496dup
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu) rs772088416
NM_025114.4(CEP290):c.5005A>C (p.Lys1669Gln)
NM_025114.4(CEP290):c.5083G>A (p.Asp1695Asn)
NM_025114.4(CEP290):c.5192A>C (p.Lys1731Thr)
NM_025114.4(CEP290):c.5226+6T>G rs772322005
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala) rs1451115875
NM_025114.4(CEP290):c.5410G>C (p.Ala1804Pro) rs2499860671
NM_025114.4(CEP290):c.5476C>A (p.Leu1826Met) rs780490718
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr) rs1211065759
NM_025114.4(CEP290):c.5800G>C (p.Gly1934Arg) rs755115313
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.5845C>T (p.Leu1949Phe)
NM_025114.4(CEP290):c.5854A>G (p.Lys1952Glu)
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly) rs371525247
NM_025114.4(CEP290):c.593G>A (p.Arg198Lys)
NM_025114.4(CEP290):c.6025C>A (p.Leu2009Ile) rs1428066297
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg) rs749626770
NM_025114.4(CEP290):c.614G>T (p.Arg205Leu) rs547665147
NM_025114.4(CEP290):c.6209C>A (p.Ser2070Tyr) rs1189095461
NM_025114.4(CEP290):c.6476C>G (p.Thr2159Ser) rs748802599
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6498T>G (p.Ile2166Met)
NM_025114.4(CEP290):c.6860C>G (p.Ala2287Gly) rs1452193903
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.7095C>G (p.Asn2365Lys)
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu) rs2499368835
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile) rs2501474107
NM_025114.4(CEP290):c.928G>A (p.Val310Ile)

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