ClinVar Miner

List of variants reported as not provided for Charcot-Marie-Tooth disease type 1E

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626

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.