ClinVar Miner

Variants studied for autoimmune disease

Included ClinVar conditions (85):
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 affects association risk factor not provided total
359 160 2236 865 503 1 16 10 85 4019

Gene and significance breakdown #

Total genes and gene combinations: 78
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
LRBA 31 12 462 149 59 0 0 0 0 705
NOD2 11 1 245 106 88 0 3 1 80 437
AIRE 53 61 175 122 36 0 0 0 1 416
PLCG2 3 0 220 102 53 0 0 0 0 375
CASP10 2 0 147 38 52 0 0 0 0 226
SLC29A3 22 4 111 38 30 0 0 0 0 195
COPA 4 1 111 41 12 0 0 0 0 169
PRKCD 5 1 88 50 11 0 0 0 0 153
FAS 37 4 70 16 24 0 0 0 0 141
STAT1 22 9 63 32 17 0 0 0 1 140
ATRIP, ATRIP-TREX1, TREX1 16 7 73 25 14 0 0 0 0 127
CASP8 4 2 76 26 16 0 0 0 0 121
ITCH 6 1 61 37 6 0 0 0 0 111
FOXP3 22 8 42 18 10 0 0 0 0 98
FBN1 16 12 55 11 0 0 0 0 1 93
CTLA4 21 6 52 10 1 0 0 0 0 85
FASLG 3 0 52 21 18 0 0 0 0 82
ATP2C1 9 0 44 5 21 0 0 0 0 79
COL11A1 6 2 16 3 4 0 0 0 0 31
SAMHD1 1 0 14 5 11 0 0 0 0 29
HNRNPA1 3 14 2 7 0 0 0 0 0 26
STAT3 13 3 4 0 0 0 0 0 0 20
SAMHD1, TLDC2 0 0 10 0 9 0 0 0 0 19
HNF1A 7 1 9 0 0 0 0 0 0 17
ACTA2, FAS 0 0 5 3 3 0 0 0 0 11
BLK 5 0 0 0 6 0 0 0 0 11
KRAS 5 1 2 0 0 0 0 0 0 8
PADI4 0 0 0 0 0 0 6 0 0 6
SOCS1 0 5 0 0 0 1 0 0 0 6
ADA2 3 1 1 0 0 0 0 0 0 5
CIITA 0 0 4 0 0 0 0 1 0 5
ZAP70 2 0 3 0 0 0 0 0 0 5
LRBA, MAB21L2 3 0 1 0 0 0 0 0 0 4
PADI2 0 0 0 0 0 0 4 0 0 4
IL1B 0 0 0 0 0 0 3 0 0 3
LBR 1 1 2 0 0 0 0 0 0 3
LOC108281188, LRBA 1 0 2 0 0 0 0 0 0 3
PMP22 0 0 2 0 0 0 0 0 1 3
​intergenic 0 1 1 0 0 0 0 0 0 2
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 1 0 1 0 0 0 0 0 0 2
IL2RA 1 0 1 0 0 0 0 0 0 2
INS, INS-IGF2 2 0 0 0 0 0 0 0 1 2
POLG 0 0 2 0 0 0 0 0 0 2
PRKCD, RFT1 1 0 1 0 0 0 0 0 0 2
TLR1 2 0 0 0 0 0 0 0 0 2
ACTA2, ANKRD22, CH25H, FAS, IFIT2, IFIT3, LIPA, LIPM, LIPN, STAMBPL1 1 0 0 0 0 0 0 0 0 1
ACTA2, CH25H, FAS, LIPA 1 0 0 0 0 0 0 0 0 1
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, C3orf84, CAMKV, CCDC71, CDHR4, CELSR3, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 0 1
AP4B1, PTPN22 0 0 0 0 0 0 0 1 0 1
BANK1 0 0 0 0 1 0 0 0 0 1
CASP10, CASP8 1 0 0 0 0 0 0 0 0 1
CCDC22, FOXP3 0 0 1 0 0 0 0 0 0 1
CCR5, CCR5AS 0 0 1 0 0 0 0 0 0 1
CD244 0 0 0 0 0 0 0 1 0 1
CD28, CTLA4, ICOS, RAPH1 1 0 0 0 0 0 0 0 0 1
CEL 0 0 1 0 0 0 0 0 0 1
CHRNG 1 0 0 0 0 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 0 0 0 1
DNASE1 0 0 0 0 1 0 0 0 0 1
DNASE1L3 1 0 0 0 0 0 0 0 0 1
DNASE2 0 0 1 0 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 0 1
FAM111B 0 1 0 0 0 0 0 0 0 1
FOXD3 0 0 0 0 0 0 0 1 0 1
HLA-B 0 0 0 0 0 0 0 1 0 1
IL21R 0 1 0 0 0 0 0 0 0 1
IL7R 1 0 0 0 0 0 0 0 0 1
IRF5 1 0 0 0 0 0 0 0 0 1
KIF1B 0 0 1 0 0 0 0 0 0 1
NFKBIL1 0 0 0 0 0 0 0 1 0 1
NLRP1 0 0 0 0 0 0 0 1 0 1
NR1H3 1 0 0 0 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 0 0 1
SLC22A4 0 0 0 0 0 0 0 1 0 1
SLC39A13 0 0 1 0 0 0 0 0 0 1
SUMO4, TAB2 1 0 0 0 0 0 0 0 0 1
SUPT20H 0 0 0 0 0 0 0 1 0 1
TRAF3IP2 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 151 51 1749 747 270 0 3 1 0 2972
Illumina Clinical Services Laboratory,Illumina 2 1 328 97 255 0 0 0 0 683
OMIM 152 0 2 0 0 0 0 8 0 162
Natera, Inc. 5 4 43 11 17 0 0 0 0 80
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 0 80 80
Counsyl 8 38 17 3 0 0 0 0 0 66
Baylor Genetics 11 2 47 0 0 0 0 0 0 60
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 9 47 0 0 0 0 0 0 59
Fulgent Genetics,Fulgent Genetics 14 6 29 1 0 0 0 0 0 50
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 3 14 2 7 0 0 0 0 0 26
Mendelics 6 2 7 6 3 0 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 7 4 3 2 2 0 0 0 0 18
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 5 2 5 5 1 0 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 3 10 0 0 0 0 17
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 10 0 0 0 0 0 0 15
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 13 0 0 0 0 0 0 0 0 13
Carola Vinuesa Lab,John Curtin School of Medical Research 5 0 0 0 7 0 0 0 0 12
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 11 0 0 11
Genetic Services Laboratory, University of Chicago 7 3 0 0 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 2 0 0 0 0 0 8
New York Genome Center 1 1 6 0 0 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 3 0 0 0 0 7
Myriad Women's Health, Inc. 3 4 0 0 0 0 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 1 0 0 0 0 6
GeneReviews 4 0 0 0 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 1 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 3 0 0 0 0 0 0 5
Immunogenetics of Pediatric Autoimmune Diseases,Institut Imagine 0 5 0 0 0 0 0 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 1 2 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 0 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 2 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 2 0 0 0 0 3
Institute of Biochemistry and Biotechnology,Faculty of Life Sciences, University of the Punjab 3 0 0 0 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 0 2
Department of Zoology,University of the Punjab, Lahore 0 0 0 0 0 0 2 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 1 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 1 0 0 0 0 0 0 2
Department of Immunology,University Hospital Southampton NHSFT 0 2 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 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 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Congenital Heart Disease Genetic Program Lab,American University of Beirut 1 0 0 0 0 0 0 0 0 1
Choi Lab,Seoul National University 1 0 0 0 0 0 0 0 0 1
MS Genetics Lab,University of British Columbia 1 0 0 0 0 0 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 1 0 0 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 0 1
Department of Medical Genetics,Gazi University 1 0 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 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 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 0 1
MK Azim Lab,Mohammad Ali Jinnah University 0 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 0 1
GenHotel - European Research Laboratory for Rheumatoid Arthritis,University of Paris Saclay 0 0 0 0 0 0 0 1 0 1
Genetics Laboratory, Department of Biology,Semnan University 1 0 0 0 0 0 0 0 0 1
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 0 0 1 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 0 1
LACE Laboratorios 0 1 0 0 0 0 0 0 0 1
Centro Nacional de Biotecnologia,Consejo Superior de Investigaciones Cientificas 0 0 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 0 0 1
Experimental and Health Sciences Department,Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections,Institut Pasteur de Tunis 1 0 0 0 0 0 0 0 0 1

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