List of variants reported as benign for Alpha-1-antitrypsin deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)	rs6647	0.31278
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	rs1303	0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)	rs709932	0.11804
NM_000295.5(SERPINA1):c.*1331G>A	rs11568814	0.07789
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)	rs1049800	0.03703
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=)	rs20546	0.03085
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=)	rs34112109	0.01536
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=)	rs9630	0.00897
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=)	rs72552402	0.00522
NM_000295.5(SERPINA1):c.1029C>T (p.Ser343=)	rs760494093	0.00003

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.