ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Kariminejad - Najmabadi Pathology & Genetics Center

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser)
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)

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.