ClinVar Miner

List of variants in gene CEP290 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.3(CEP290):c.1517G>A (p.Arg506His) rs866571949
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2268G= (p.Ser756=) rs2468255
NM_025114.3(CEP290):c.2368-37T>G rs115837670
NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2818-50G>C rs2471532
NM_025114.3(CEP290):c.297+36A>G rs45468703
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3408A>G (p.Gln1136=) rs11836796
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3574-9T>G rs202038547
NM_025114.3(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.442-19T>A rs113132803
NM_025114.3(CEP290):c.4621del (p.Thr1541Profs) rs587779733
NM_025114.3(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931
NM_025114.3(CEP290):c.5227-43G>A rs2468245
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.563A>T (p.Asp188Val) rs746511786
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5709+18C>A rs7973969
NM_025114.3(CEP290):c.5709+25A>C rs17015438
NM_025114.3(CEP290):c.5709+45G>C rs45477793
NM_025114.3(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.6336G>T (p.Arg2112=) rs1475220538
NM_025114.3(CEP290):c.6357+20A>T rs7971699
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.7035-38C>G rs45477492
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.942+28T>C rs56149649

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.