List of variants in gene PMP22 reported as pathogenic for Charcot-Marie-Tooth disease type 1E

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	rs104894623
NM_000304.4(PMP22):c.281del (p.Gly94fs)	rs80338763
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)	rs786205111
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	rs879253954
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	rs104894626

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.