List of variants in gene EGR2 reported as pathogenic for Charcot-Marie-Tooth disease, type I

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)	rs281865136
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)	rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)	rs281865137
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu)	rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	rs104894159
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)	rs864622273
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	rs121434563
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)	rs749558026

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.