List of variants in gene DNM2 reported as uncertain significance for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005361.3(DNM2):c.1196+745G>T
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)	rs121909093
NM_001005361.3(DNM2):c.1664_1671+1del	rs1568314339
NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del)	rs1599620398
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)	rs1599620408
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu)	rs121909088
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)	rs121909094
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)	rs1269225724

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.