ClinVar Miner

List of variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)

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.