ClinVar Miner

Variants studied for angioedema

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 risk factor total
92 22 71 41 78 1 298

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
SERPING1 80 20 29 13 43 0 183
F12 3 1 16 10 19 0 46
PLG 2 0 20 8 9 0 39
F12, SLC34A1 1 0 0 10 5 0 14
ANGPT1 1 0 2 0 0 0 3
KNG1 2 0 1 0 0 0 3
MYOF 1 1 0 0 1 0 3
HS3ST6 1 0 1 0 0 0 2
XPNPEP2 0 0 1 0 0 1 2
G6PD 1 0 0 0 0 0 1
LOC126859861, PLG 0 0 0 0 1 0 1
SYTL2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 0 0 32 26 34 0 90
CeMIA 1 1 3 6 36 0 47
Fulgent Genetics, Fulgent Genetics 2 0 21 11 3 0 37
Peking Union Medical College Hospital 24 10 1 0 0 0 35
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 0 32
OMIM 25 0 0 0 0 1 26
Genome-Nilou Lab 0 0 0 0 14 0 14
Division of Rheumatology, Allergy and Immunology, UCSD 7 1 2 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 1 1 0 6
Institute of Human Genetics, University of Wuerzburg 0 2 2 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Central Haematology Laboratory, Luzerner Kantonsspital 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 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
HSP Biomedical Diagnostics Department, Hospital San Pedro 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 1
ATS GeneTech Pvt Ltd 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 0 0 0 1

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