ClinVar Miner

Variants studied for angioedema

Included ClinVar conditions (10):
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 risk factor total
39 2 18 34 9 1 102

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SERPING1 33 2 12 12 2 0 60
F12, SLC34A1 4 0 5 22 7 0 38
G6PD 0 0 1 0 0 0 1
PLG 1 0 0 0 0 0 1
SYTL2 1 0 0 0 0 0 1
XPNPEP2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 15 34 8 0 57
OMIM 18 0 0 0 0 1 19
Department of Immunology and Histocompatibility,University of Thessaly 16 1 0 0 0 0 17
Central Haematology Laboratory,Luzerner Kantonsspital 2 0 1 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Nöthen Lab, Institute of Human Genetics,University Hospital Bonn 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Fulgent Genetics 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 1

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