List of variants reported as benign for immunodeficiency 23 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn)	rs473267	0.35079
NM_015599.3(PGM3):c.1281A>G (p.Glu427=)	rs542948	0.34845
NM_015599.3(PGM3):c.-2-190T>A	rs73749738	0.02750
NM_015599.3(PGM3):c.1464C>T (p.Tyr488=)	rs34873318	0.01701
NM_015599.3(PGM3):c.1539+19A>G	rs115918938	0.00694
NM_015599.3(PGM3):c.33A>G (p.Ala11=)	rs150763574	0.00411
NM_015599.3(PGM3):c.389+12A>T	rs150967479	0.00195
NM_015599.3(PGM3):c.349C>A (p.Leu117Met)	rs190279776	0.00024
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)	rs34238319	0.00023
NM_015599.3(PGM3):c.1467G>A (p.Lys489=)	rs200072483	0.00005
NM_015599.3(PGM3):c.50A>G (p.Asn17Ser)	rs369116726	0.00002
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu)	rs73749732
NM_015599.3(PGM3):c.945+13del	rs2538121614
NM_015599.3(PGM3):c.946-7del	rs758669509

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.