ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290

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.