List of variants in gene PDK3 reported as benign for Charcot-Marie-Tooth disease

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_001142386.3(PDK3):c.1077+8G>A	rs370736936
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=)	rs201198782
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr)	rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val)	rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp)	rs371137355
NM_005391.5(PDK3):c.249-9del

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.