ClinVar Miner

List of variants in gene CEP290 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 88
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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.2483+226G>A rs79549870 0.04257
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.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.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.1079G>A (p.Arg360Gln) rs188164241 0.00405
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.2268A>G (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

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