ClinVar Miner

List of variants in gene LCK studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_005356.5(LCK):c.1195+4C>T rs142706318
NM_005356.5(LCK):c.1328-7C>T rs577301476
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_005356.5(LCK):c.1382G>A (p.Arg461His)
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_005356.5(LCK):c.161C>G (p.Ser54Cys) rs147431889
NM_005356.5(LCK):c.171G>A (p.Pro57=) rs528967735
NM_005356.5(LCK):c.252G>T (p.Lys84Asn)
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
NM_005356.5(LCK):c.632A>T (p.Asn211Ile)
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.84C>T (p.Val28=) rs144437329
NM_005356.5(LCK):c.851C>G (p.Ala284Gly)
NM_005356.5(LCK):c.888A>G (p.Gln296=) rs35029770
NM_005356.5(LCK):c.896G>A (p.Arg299Gln)
NM_005356.5(LCK):c.90G>A (p.Leu30=)

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.