ClinVar Miner

List of variants in gene CCDC39 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=) rs6769457 0.33560
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) rs2338436 0.14399
NM_181426.2(CCDC39):c.1528-43A>G rs73051767 0.13950
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val) rs57838737 0.04150
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) rs112738198 0.02615
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu) rs61733579 0.01895
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr) rs61733578 0.01102
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00860
NM_181426.2(CCDC39):c.1875-20G>A rs73051759 0.00467
NM_181426.2(CCDC39):c.233G>A (p.Arg78His) rs115952495 0.00435
NM_181426.2(CCDC39):c.930+12C>G rs1401333 0.00338
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=) rs79329972 0.00226
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) rs61733577 0.00156
NM_181426.2(CCDC39):c.603C>T (p.Ser201=) rs200422639 0.00059
NM_181426.2(CCDC39):c.1818T>C (p.His606=) rs199503571 0.00046
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=) rs374132008 0.00034
NM_181426.2(CCDC39):c.210+4C>T rs182803063 0.00011
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) rs79353057 0.00010
NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val) rs200651695 0.00006
NM_181426.2(CCDC39):c.1167+15dup
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1363-14_1363-13dup
NM_181426.2(CCDC39):c.1363-23dup rs374074877
NM_181426.2(CCDC39):c.1528-12del

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.