ClinVar Miner

List of variants in gene PRX reported as pathogenic for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NC_000019.10:g.(?_40403686)_(40403882_?)del
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.231C>G (p.Tyr77Ter)
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006Glnfs) rs1301129751
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_181882.2(PRX):c.353delA (p.Lys118Argfs)

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.