List of variants in gene CEP290 reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	rs61941020	0.00714
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	rs182369459	0.00231
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)	rs184018899	0.00064
NM_025114.4(CEP290):c.943-8A>T	rs200729812	0.00037
NM_025114.4(CEP290):c.943-4C>T	rs199770158	0.00034
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)	rs192259143	0.00032
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)	rs373341530	0.00030
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)	rs370395204	0.00022
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)	rs374852145	0.00022
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)	rs200969981	0.00019
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	rs202159966	0.00016
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)	rs183071230	0.00015
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)	rs372557655	0.00013
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)	rs367580207	0.00012
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)	rs377142184	0.00007
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)	rs376425111	0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	rs375038986	0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)	rs758453972	0.00005
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)	rs768448895	0.00003
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)	rs934685879	0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)	rs774900495	0.00002
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)	rs199790246	0.00002
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)	rs763605289	0.00001
NM_025114.4(CEP290):c.1579A>G (p.Lys527Glu)
NM_025114.4(CEP290):c.3045G>T (p.Glu1015Asp)
NM_025114.4(CEP290):c.3310C>A (p.Leu1104Ile)
NM_025114.4(CEP290):c.3880C>A (p.Gln1294Lys)
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val)	rs959651787
NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)	rs371157150
NM_025114.4(CEP290):c.4973C>A (p.Thr1658Asn)
NM_025114.4(CEP290):c.5477T>G (p.Leu1826Arg)
NM_025114.4(CEP290):c.5818A>G (p.Thr1940Ala)
NM_025114.4:c.(2367+1_2368-1)_(2817+1_2818-1)dup
NM_025114.4:c.(942+1_943-1)_(1359+1_1360-1)del

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.