List of variants reported as likely pathogenic for disorder of GPI anchor biosynthesis by Mendelics

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)	rs150734953	0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00006
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)	rs778531326	0.00002
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)	rs922800309	0.00001
NM_002641.4(PIGA):c.109A>G (p.Met37Val)	rs2147724073
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)	rs1602206514
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser)	rs1590416370
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)	rs1599663316

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.