ClinVar Miner

Variants studied for autoimmune disease, multisystem, infantile-onset

Included ClinVar conditions (5):
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 total
21 5 15 1 3 44

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
STAT3 16 5 9 0 2 31
ZAP70 2 0 6 1 1 10
CBLB, LOC126806757 2 0 0 0 0 2
CBLB 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 12 0 0 0 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 2 1 2 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 0 0 5
Baylor Genetics 1 0 3 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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