List of variants reported as likely benign for Peroxisome biogenesis disorder 1A (Zellweger)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004813.4(PEX16):c.*587A>G	rs72902478	0.06684
NM_002857.3(PEX19):c.-41C>T	rs113442137	0.04456
NM_004813.2(PEX16):c.-279G>A	rs2280330	0.02963
NM_000466.3(PEX1):c.3439-14_3439-13del	rs150005994	0.02536
NM_001351132.2(PEX5):c.794_795dup	rs112785895	0.02091
NM_000466.3(PEX1):c.1671-7T>C	rs74519968	0.01312
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00585
NM_000466.3(PEX1):c.3720C>T (p.His1240=)	rs34825053	0.00582
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)	rs146312634	0.00223
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)	rs144942544	0.00217
NM_000466.3(PEX1):c.2718+3A>G	rs370536529	0.00040
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	rs141650598	0.00028
NM_000286.3(PEX12):c.550_552del	rs147182821
NM_000286.3(PEX12):c.569_570del	rs3031851
NM_000287.4(PEX6):c.1234-8_1234-7dup	rs200121485
NM_000466.3(PEX1):c.129+10C>T	rs886062508

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.