ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_004278.4(PIGL):c.*20A>G rs15739 0.39527
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_004278.4(PIGL):c.*364G>A rs114659268 0.00706
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_017837.4(PIGV):c.*167G>A rs142176099 0.00264
NM_004278.4(PIGL):c.*182A>G rs140126036 0.00231
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_017837.4(PIGV):c.-333C>T rs118069986

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.