ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for not provided

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Gene type:
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Total variants: 109
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HGVS dbSNP
GRCh37/hg19 12q21.32(chr12:88485224-88505633)x1
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755
NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg) rs794727106
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052
NM_025114.4(CEP290):c.1392_1393insCTACTTA (p.Ile465fs) rs1565900023
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411
NM_025114.4(CEP290):c.2089G>C (p.Ala697Pro) rs886044122
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780
NM_025114.4(CEP290):c.251-11T>A rs200666995
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.2683T>C (p.Ser895Pro) rs1555216720
NM_025114.4(CEP290):c.2708T>G (p.Leu903Ter) rs768822859
NM_025114.4(CEP290):c.2738_2742del (p.Glu913fs) rs1565876618
NM_025114.4(CEP290):c.2817+4C>T rs768895932
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801
NM_025114.4(CEP290):c.3107A>G (p.Asn1036Ser) rs1064797172
NM_025114.4(CEP290):c.3240T>C (p.Tyr1080=) rs886042467
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789
NM_025114.4(CEP290):c.3385G>A (p.Ala1129Thr) rs71454116
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622
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.4031T>C (p.Val1344Ala) rs369227219
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.4(CEP290):c.4510G>A (p.Glu1504Lys) rs886043748
NM_025114.4(CEP290):c.4654_4659del (p.Lys1552_Glu1553del) rs1555207186
NM_025114.4(CEP290):c.4704+16A>G rs559388032
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491
NM_025114.4(CEP290):c.5013-7A>C rs762217156
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439
NM_025114.4(CEP290):c.5859C>T (p.Ala1953=) rs727503852
NM_025114.4(CEP290):c.5973G>C (p.Lys1991Asn) rs1064795773
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613
NM_025114.4(CEP290):c.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.4(CEP290):c.6523-6T>C rs794727692
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.4(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.6646-11T>G rs1431021703
NM_025114.4(CEP290):c.6720A>G (p.Gln2240=) rs751895513
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6960+10G>C rs75011402
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.4(CEP290):c.7197G>A (p.Lys2399=) rs779550219
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246
NM_025114.4(CEP290):c.852+3A>G rs1555225551
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.943-4C>T rs199770158
NM_025114.4(CEP290):c.943-8A>T rs200729812
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.970A>G (p.Ile324Val) rs1555224610

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