List of variants reported as pathogenic for Alpha-1-antitrypsin deficiency by GeneReviews

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_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	rs28929470	0.00211
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00004
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)	rs121912713
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)	rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)	rs28931572
PI NULL(HONG KONG 1)	rs1057519610
PI NULL(PROCIDA)
QOgranite falls allele

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.