List of variants reported as uncertain significance for autoimmune disease by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	rs56006128	0.00138
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)	rs138790505	0.00029
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)	rs104895423	0.00026
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg)	rs148697064	0.00019
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met)	rs149933993	0.00017
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu)	rs368331265	0.00011
NM_000383.4(AIRE):c.652+15G>A	rs760027964	0.00007
NM_001228.5(CASP8):c.-26-8118G>A	rs376887804	0.00007
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)	rs104895457	0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)	rs374343844	0.00004
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met)	rs141613906	0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu)	rs759793127	0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg)	rs782429831	0.00002
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu)	rs368446882	0.00001
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile)	rs781950537	0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala)	rs782474624	0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala)	rs371962581	0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala)	rs763551197	0.00001
NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu)	rs1294147397
NM_005214.5(CTLA4):c.472C>T (p.Pro158Ser)
NM_007315.4(STAT1):c.1738G>A (p.Gly580Ser)
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu)	rs1691783002
NM_014009.4(FOXP3):c.543-3C>T	rs1557116438
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter)	rs746530401
NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs)	rs1559299395
NM_033360.4(KRAS):c.559A>G (p.Ile187Val)	rs779951033
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr)	rs2081912356

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.