List of variants studied for autoimmune disease by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg)	rs8176919	0.02101
NM_001228.5(CASP8):c.-26-8094G>C	rs755371396	0.00001
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter)	rs776701942	0.00001
NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser)	rs144320413	0.00001
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter)	rs2040608439
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp)	rs1942959342
NM_001228.5(CASP8):c.-26-8138T>A	rs764133648
NM_001228.5(CASP8):c.-26-8157C>A	rs201548238
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter)	rs1368296717
NM_005214.5(CTLA4):c.172_175del (p.Cys58fs)	rs1688712720
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro)	rs1688731438
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg)	rs2081520204

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.