List of variants reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2P by OMIM

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=)	rs387907032
NM_001005373.4(LRSAM1):c.2047-1G>A	rs1564287793
NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr)	rs886041051
NM_001005373.4(LRSAM1):c.2121_2122dup (p.Leu708fs)	rs786200930

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.