ClinVar Miner

List of variants studied for autoimmune disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) rs2040385695

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.