ClinVar Miner

Variants studied for lupus erythematosus

Included ClinVar conditions (16):
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 likely risk allele risk factor total
61 23 321 146 59 1 2 8 609

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
ATRIP, ATRIP-TREX1, TREX1 45 14 259 126 11 0 0 1 446
DNASE1L3 2 2 27 12 0 0 0 0 43
SAMHD1 2 3 15 6 12 0 0 0 36
BLK 4 0 1 2 21 1 2 0 31
SAMHD1, TLDC2 0 0 11 0 9 0 0 0 20
DNASE1 0 1 3 0 1 0 0 2 7
BLK, LOC126860303 1 0 0 0 3 0 0 0 4
TLR7 3 0 1 0 0 0 0 0 4
CTLA4 1 1 0 0 0 0 0 1 3
AP4B1, PTPN22 0 0 1 0 0 0 0 1 2
FCGR2A 0 0 2 0 0 0 0 0 2
FCGR2B 0 0 0 0 0 0 0 2 2
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, 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 1
BANK1 0 0 0 0 1 0 0 0 1
DNASE2 0 0 1 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 1
LOC130058479, SOCS1 0 1 0 0 0 0 0 0 1
LOC130065805, SAMHD1 0 0 0 0 1 0 0 0 1
SOCS1 0 1 0 0 0 0 0 0 1
TNF 0 0 0 0 0 0 0 1 1
TRAF3IP2 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 43 5 259 124 11 0 0 0 442
Fulgent Genetics, Fulgent Genetics 1 7 31 13 0 0 0 0 52
Illumina Laboratory Services, Illumina 0 0 23 5 20 0 0 0 48
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 2 18 1 2 0 24
OMIM 7 0 0 0 0 0 0 8 15
Carola Vinuesa Lab, John Curtin School of Medical Research 5 0 0 0 7 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 0 0 3
Institute of Neurology, Charite University of Medicine 0 1 0 2 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 0 2
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 0 2 0 0 0 0 0 0 2
3billion 0 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 0 1 0 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1

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