ClinVar Miner

List of variants studied for autoimmune disease by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.176-104G>A rs6994605 0.91134
NM_000207.3(INS):c.*22A>C rs3842753 0.60894
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.56594
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.48633
NM_001715.3(BLK):c.*176C>T rs1042689 0.43643
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.40867
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.39823
NM_001715.3(BLK):c.*428G>A rs1042701 0.34464
NM_001715.3(BLK):c.*92G>C rs14053 0.04341
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.02946
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.01903
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01564
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00839
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00163
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00139
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.843T>G (p.Phe281Leu) rs2306234
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163

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.