ClinVar Miner

Variants studied for autoimmune disease

Included ClinVar conditions (76):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
244 106 1041 437 298 5 17 5 2070

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
LRBA 12 2 171 19 40 0 0 0 241
FBN1 16 10 81 82 18 0 0 1 205
NOD2 9 0 109 65 25 0 4 0 190
AIRE 27 47 72 11 22 0 0 0 169
PLCG2 3 0 85 12 35 0 0 0 134
COL11A1 3 1 42 57 20 0 0 0 123
CHAT 14 4 67 12 23 0 0 1 119
CASP10 2 0 60 41 17 0 0 0 115
SLC29A3 18 2 59 18 19 0 0 0 105
FAS 23 3 26 15 12 0 0 0 70
STAT1 18 5 23 7 11 0 0 1 62
ATRIP, ATRIP-TREX1, TREX1 6 2 27 10 9 0 0 0 50
CASP8 1 0 33 11 7 0 0 0 50
ATP2C1 9 0 21 14 4 0 0 0 48
FASLG 3 0 25 18 5 0 0 0 47
PRKCD 3 1 33 4 5 0 0 0 46
COPA 4 1 19 6 10 0 0 0 40
CTLA4 11 2 23 1 1 0 0 0 37
FOXP3 14 8 12 2 1 0 0 0 37
HNRNPA1 3 14 2 7 0 0 0 0 26
ITCH 1 0 16 5 4 0 0 0 26
SAMHD1 1 0 10 9 0 0 0 0 19
STAT3 12 0 1 0 0 0 0 0 13
SAMHD1, TLDC2 0 0 5 6 1 0 0 0 12
BLK 5 0 0 0 6 0 0 0 11
HNF1A 7 1 2 0 0 0 0 0 10
ACTA2, FAS 0 0 3 3 2 0 0 0 8
KRAS 4 0 1 0 0 0 0 0 5
ADA2 2 0 1 0 0 0 0 0 3
IL2RA 0 0 1 0 0 2 0 0 3
LOC108281188, LRBA 1 0 2 0 0 0 0 0 3
PMP22 0 0 2 0 0 0 0 1 3
ZAP70 2 0 1 0 0 0 0 0 3
FBN1, LOC113939944 0 0 0 2 0 0 0 0 2
INS, INS-IGF2 2 0 0 0 0 0 0 1 2
LBR 1 1 1 0 0 0 0 0 2
PADI4 0 0 0 0 0 2 0 0 2
POLG 0 0 2 0 0 0 0 0 2
TREX1 2 0 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 0 1
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 0 0 1 0 0 0 0 0 1
AP4B1, PTPN22 0 0 0 0 0 0 1 0 1
BANK1 0 0 0 0 1 0 0 0 1
CASP10, CASP8 1 0 0 0 0 0 0 0 1
CD244 0 0 0 0 0 0 1 0 1
CIITA 0 0 0 0 0 0 1 0 1
DNASE1L3 1 0 0 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 1
FAM111B 0 1 0 0 0 0 0 0 1
FOXD3 0 0 0 0 0 0 1 0 1
HLA-B 0 0 0 0 0 0 1 0 1
IRF5 0 0 0 0 0 1 0 0 1
KIF1B 0 0 1 0 0 0 0 0 1
LOC100287329, LTA 0 0 0 0 0 0 1 0 1
NFKBIL1 0 0 0 0 0 0 1 0 1
NLRP1 0 0 0 0 0 0 1 0 1
NR1H3 1 0 0 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 1
SLC22A4 0 0 0 0 0 0 1 0 1
SLC39A13 0 0 1 0 0 0 0 0 1
STAT4 0 0 0 0 0 0 1 0 1
SUMO4, TAB2 0 0 0 0 0 0 1 0 1
SUPT20H 0 0 0 0 0 0 1 0 1
TNF 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 49 23 693 105 197 0 4 0 1071
Illumina Clinical Services Laboratory,Illumina 1 0 275 323 98 0 0 0 697
OMIM 157 0 2 0 0 3 12 0 174
Counsyl 10 38 17 3 0 0 0 0 68
Fulgent Genetics,Fulgent Genetics 14 6 29 1 0 0 0 0 50
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 7 27 0 0 0 0 0 37
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 3 14 2 7 0 0 0 0 26
Integrated Genetics/Laboratory Corporation of America 4 4 3 3 2 0 0 0 16
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 13 0 0 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 7 5 0 0 0 0 0 0 12
Carola Vinuesa Lab,John Curtin School of Medical Research 5 0 0 0 7 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 3 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 1 0 0 0 6
GeneReviews 4 0 0 0 1 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 4 0 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 2 1 0 0 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 1 2 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 2 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 2
Department of Zoology,University of the Punjab, Lahore 0 0 0 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 2
Department of Immunology,University Hospital Southampton NHSFT 0 2 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Choi Lab,Seoul National University 1 0 0 0 0 0 0 0 1
MS Genetics Lab,University of British Columbia 1 0 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 0 1
Department of Medical Genetics,Gazi University 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
GenHotel - European Research Laboratory for Rheumatoid Arthritis,University of Paris Saclay 0 0 0 0 0 0 1 0 1

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