ClinVar Miner

List of variants reported as uncertain significance for autoimmune disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) rs746055479 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000043.6(FAS):c.413C>T (p.Thr138Ile) rs760912307 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His) rs1567392735
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.963A>G (p.Leu321=) rs2150808670
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu) rs2066088699
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649

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.