ClinVar Miner

List of variants in gene combination CEP63, KY reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178554.6(KY):c.483+207G>C rs4440162 0.99872
NM_178554.6(KY):c.*258G>T rs1880375 0.63111
NM_178554.6(KY):c.*308C>T rs1880374 0.63111
NM_178554.6(KY):c.899+297T>C rs4955542 0.62932
NM_178554.6(KY):c.899+173G>A rs4245905 0.62837
NM_178554.6(KY):c.1665T>C (p.Leu555=) rs2293293 0.62616
NM_178554.6(KY):c.136+247C>T rs1868164 0.60951
NM_178554.6(KY):c.1593C>G (p.Gly531=) rs2293294 0.35725
NM_178554.6(KY):c.401-205G>A rs4435682 0.32809
NM_178554.6(KY):c.87G>T (p.Thr29=) rs13060869 0.21645
NM_178554.6(KY):c.263-259C>T rs13083717 0.18356
NM_178554.6(KY):c.263-101G>T rs62270962 0.05661
NM_178554.6(KY):c.1893A>G (p.Thr631=) rs61745335 0.04266
NM_178554.6(KY):c.137-81C>T rs6782232 0.03493
NM_178554.6(KY):c.593-59G>A rs72974182 0.02288
NM_178554.6(KY):c.137-116_137-115del rs151240057 0.01648
NC_000003.12:g.134651299T>C rs72976219
NM_178554.6(KY):c.1091-206C>T rs6806810

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.