List of variants reported as likely benign for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Illumina Laboratory Services, Illumina

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_017837.3(PIGV):c.-370G>A	rs71636780	0.05676
NM_032634.4(PIGO):c.*267C>G	rs79276933	0.03143
NM_004278.4(PIGL):c.*254T>C	rs144070256	0.00867
NM_032634.4(PIGO):c.1473G>C (p.Leu491=)	rs76932500	0.00557
NM_032634.4(PIGO):c.2040G>C (p.Leu680=)	rs41274877	0.00511
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)	rs115958467	0.00486
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)	rs149309844	0.00369
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)	rs149171782	0.00310
NM_032634.4(PIGO):c.-94C>A	rs533921038	0.00295
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp)	rs142562923	0.00277
NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile)	rs145738225	0.00025
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn)	rs201332799	0.00014
NM_003896.4(ST3GAL5):c.*115C>T	rs193077813	0.00007
NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=)	rs530496667	0.00001
NM_032634.4(PIGO):c.-213C>G	rs547807832	0.00001
NM_032634.4(PIGO):c.714C>T (p.Gly238=)	rs148186264

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.