ClinVar Miner

List of variants studied for autoimmune disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) rs151061939 0.00535
NM_006254.4(PRKCD):c.1260+6C>T rs180706867 0.00270
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_006254.4(PRKCD):c.703G>A (p.Val235Ile) rs782573482

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.