ClinVar Miner

List of variants in gene PIGT studied for Paroxysmal nocturnal hemoglobinuria 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834

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.