ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Centogene AG - the Rare Disease Company

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_176787.5(PIGN):c.2619+87G>A rs576621607 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) rs776095449 0.00001
NM_032634.4(PIGO):c.2707T>G (p.Phe903Val) rs1009399563
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155

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.