ClinVar Miner

List of variants reported for Charcot-Marie-Tooth disease axonal type 2S by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759 0.00001
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2738G>T (p.Cys913Phe)

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.