ClinVar Miner

List of variants in gene LOC114004390, SH3TC2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NC_000005.9:g.(?_148442534)_(148442737_?)del
NM_024577.3(SH3TC2):c.-92C>T rs886060200

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.