List of variants in gene PEX5 reported as likely benign by Illumina Laboratory Services, Illumina

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.794_795dup	rs112785895	0.02091
NM_001351132.2(PEX5):c.-17+188T>C	rs186539500	0.01324
NM_001351132.2(PEX5):c.1718+13A>G	rs116873137	0.01093
NM_001351132.2(PEX5):c.*20G>C	rs145760932	0.00512
NM_001351132.2(PEX5):c.*1097T>C	rs116107198	0.00489
NM_001351132.2(PEX5):c.*114C>T	rs187571620	0.00329
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)	rs61740909	0.00290
NM_001351132.2(PEX5):c.*462G>C	rs75145323	0.00089
NM_001351132.2(PEX5):c.-17+273G>T	rs117442311	0.00027
NM_001351132.2(PEX5):c.-17+151G>A	rs146875386

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.