ClinVar Miner

Variants studied for systemic lupus erythematosus

Included ClinVar conditions (8):
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
14 10 41 14 26 1 2 8 116

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
DNASE1L3 3 1 27 12 0 0 0 0 43
BLK 4 0 1 2 21 1 2 0 31
ATRIP, ATRIP-TREX1, TREX1 1 5 5 0 0 0 0 1 12
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
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
SOCS1 0 1 0 0 0 0 0 0 1
TNF 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association likely risk allele risk factor total
Fulgent Genetics, Fulgent Genetics 0 4 29 12 0 0 0 0 45
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 2 18 1 2 0 24
OMIM 4 0 0 0 0 0 0 8 12
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 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
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
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
New York Genome Center 0 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 1 0 0 0 0 0 0 0 1

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