ClinVar Miner

List of variants in gene CEP290 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6960+257T>C rs2468242 0.92704
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_025114.4(CEP290):c.4195-348C>T rs2468249 0.89010
NM_025114.4(CEP290):c.943-213G>A rs2471521 0.87693
NM_025114.4(CEP290):c.1066-255T>C rs2468260 0.87677
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_025114.4(CEP290):c.1824+368T>G rs2960425 0.76923
NM_025114.4(CEP290):c.4704+281G>A rs2468248 0.76918
NM_025114.4(CEP290):c.942+271A>G rs2471520 0.76896
NM_025114.4(CEP290):c.-28+101C>T rs2468222 0.74729
NM_025114.4(CEP290):c.2991+1897G>A rs2471534 0.50509
NM_025114.4(CEP290):c.-27-188dup rs71082427 0.50493
NM_025114.4(CEP290):c.2991+205T>C rs10466971 0.30254
NM_025114.4(CEP290):c.6646-275T>C rs12426625 0.13876
NM_025114.4(CEP290):c.6961-138A>T rs17418744 0.12927
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_025114.4(CEP290):c.5227-301A>C rs59247112 0.10763
NM_025114.4(CEP290):c.1824+81T>G rs190820871 0.10429
NM_025114.4(CEP290):c.496-269G>T rs7310461 0.09932
NM_025114.4(CEP290):c.2217+135A>T rs78143067 0.09910
NM_025114.4(CEP290):c.4705-257A>G rs11104732 0.08006
NM_025114.4(CEP290):c.1360-65A>T rs11104741 0.07517
NM_025114.4(CEP290):c.1189+257A>C rs28393959 0.07511
NM_025114.4(CEP290):c.6645+184T>A rs73207079 0.07320
NM_025114.4(CEP290):c.6960+64A>G rs76663684 0.05574
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.1910-207G>A rs7952847 0.05378
NM_025114.4(CEP290):c.2052+268A>G rs60380764 0.05370
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.5587-98A>G rs7960861 0.05359
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_025114.4(CEP290):c.7130-129A>G rs59691324 0.04347
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_025114.4(CEP290):c.3309+225T>G rs76560287 0.04257
NM_025114.4(CEP290):c.442-85C>T rs115764060 0.04025
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_025114.4(CEP290):c.3573+187C>A rs112112148 0.03946
NM_025114.4(CEP290):c.2483+226G>A rs79549870 0.03740
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_025114.4(CEP290):c.4704+314A>T rs17015443 0.03598
NM_025114.4(CEP290):c.1066-200A>G rs17335506 0.02972
NM_025114.4(CEP290):c.1189+91T>C rs116707638 0.02525
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_025114.4(CEP290):c.3462-286A>G rs77707234 0.01976
NM_025114.4(CEP290):c.-27-56A>C rs28636672 0.01737
NM_025114.4(CEP290):c.3573+318A>G rs116467530 0.01635
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025114.4(CEP290):c.7035-140T>C rs150353864 0.01189
NM_025114.4(CEP290):c.-33G>T rs139415563 0.00894
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.1824+59del rs890305929
NM_025114.4(CEP290):c.1824+60G>T rs1351164770
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.298-144del rs112841615
NM_025114.4(CEP290):c.2991+1325C>G rs10858687
NM_025114.4(CEP290):c.2991+1333dup rs762783922
NM_025114.4(CEP290):c.2991+1358G>T rs1409280810
NM_025114.4(CEP290):c.2991+179CA[8] rs59853208
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-54del rs59949315
NM_025114.4(CEP290):c.4704+264del rs5799853
NM_025114.4(CEP290):c.4704+46del rs11356711
NM_025114.4(CEP290):c.5226+134T>C rs2468246
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025114.4(CEP290):c.6136-182dup rs11426323
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.7034+272C>A rs7980746
NM_025114.4(CEP290):c.7034+41dup rs201140440
NM_025114.4(CEP290):c.7129+73del rs372674637
NM_025114.4(CEP290):c.852+73A>G rs61265751
NM_025114.4(CEP290):c.853-127_853-125dup rs71082426

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.