ClinVar Miner

List of variants in gene GDAP1 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810

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.