List of variants in gene combination LOC126805598, PLEKHG5 reported as likely benign for Charcot-Marie-Tooth disease recessive intermediate C

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)	rs144859183	0.00041
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)	rs140687324	0.00021
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=)	rs772435791	0.00001
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=)	rs2148598115
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=)	rs2148598086
NM_020631.6(PLEKHG5):c.43+12C>T
NM_020631.6(PLEKHG5):c.43+13G>C
NM_020631.6(PLEKHG5):c.43+19C>T
NM_020631.6(PLEKHG5):c.43+20G>A	rs200779049
NM_020631.6(PLEKHG5):c.43+7A>G
NM_020631.6(PLEKHG5):c.43+8_43+22del

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.