ClinVar Miner

List of variants in gene CEP290, LOC129390514 studied for Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6271-8T>C rs1039146791 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6271-11T>C
NM_025114.4(CEP290):c.6271-13T>G
NM_025114.4(CEP290):c.6271-16G>A
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.6271-9A>T
NM_025114.4(CEP290):c.6291G>A (p.Lys2097=) rs2136785499
NM_025114.4(CEP290):c.6294A>G (p.Glu2098=) rs1213494233
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6324A>G (p.Ala2108=)
NM_025114.4(CEP290):c.6327A>G (p.Glu2109=)
NM_025114.4(CEP290):c.6336G>A (p.Arg2112=) rs1475220538
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
NM_025114.4(CEP290):c.6348T>C (p.His2116=)
NM_025114.4(CEP290):c.6351T>C (p.Val2117=) rs2136784239
NM_025114.4(CEP290):c.6354A>G (p.Arg2118=) rs762397066
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6357+11A>C
NM_025114.4(CEP290):c.6357+16C>T
NM_025114.4(CEP290):c.6357+17C>T
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6357+20A>G
NM_025114.4(CEP290):c.6357+9_6357+14del

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.