List of variants reported as benign for Peroxisome biogenesis disorder 2B by Labcorp Genetics (formerly Invitae), Labcorp

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_001351132.2(PEX5):c.815T>C (p.Met272Thr)	rs76708142	0.02223
NM_001351132.2(PEX5):c.1718+13A>G	rs116873137	0.01093
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)	rs59209175	0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)	rs115338343	0.00644
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)	rs61740909	0.00290
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)	rs150761638	0.00221
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)	rs149102738	0.00209
NM_001351132.2(PEX5):c.471C>T (p.Ala157=)	rs144331955	0.00108
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)	rs200020561	0.00103
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)	rs200215904	0.00010
NM_001351132.2(PEX5):c.381T>C (p.Asp127=)	rs201467035	0.00001
NM_001351132.2(PEX5):c.1394+14dup	rs1186018434
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)	rs115760878
NM_001351132.2(PEX5):c.148-15_148-12del	rs774517551
NM_001351132.2(PEX5):c.754-8del
NM_001351132.2(PEX5):c.966+24dup	rs1944415107

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.