ClinVar Miner

List of variants in gene DHTKD1 reported as uncertain significance for Charcot-Marie-Tooth disease, axonal, type 2Q

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909
NM_018706.7(DHTKD1):c.2659del (p.Leu887fs)
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)

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.