ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302
NM_014845.5(FIG4):c.290-2A>G
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_181882.2(PRX):c.979del (p.Asp327fs) rs1568708792

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.