ClinVar Miner

Variants studied for angioedema

Included ClinVar conditions (11):
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 not provided total
51 8 39 26 35 1 20 177

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 risk factor not provided total
SERPING1 46 8 24 9 14 0 0 100
F12, SLC34A1 4 0 13 17 21 0 0 53
ACE 0 0 0 0 0 0 2 2
KLK3 0 0 0 0 0 0 2 2
KNG1 0 0 0 0 0 0 2 2
PLG 1 0 0 0 0 0 1 2
SERPINA1 0 0 0 0 0 0 2 2
BDKRB2 0 0 0 0 0 0 1 1
C1S 0 0 0 0 0 0 1 1
CPN1 0 0 0 0 0 0 1 1
DPP4 0 0 0 0 0 0 1 1
ELANE 0 0 0 0 0 0 1 1
G6PD 0 0 1 0 0 0 0 1
KRT1 0 0 0 0 0 0 1 1
LOC106694315, MPO 0 0 0 0 0 0 1 1
PLAT 0 0 0 0 0 0 1 1
PROC 0 0 0 0 0 0 1 1
SYTL2 0 0 1 0 0 0 0 1
TLR2 0 0 0 0 0 0 1 1
TLR4 0 0 0 0 0 0 1 1
XPNPEP2 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 32 26 34 0 0 90
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 0 0 32
CeMIA 0 0 0 0 0 0 20 20
OMIM 18 0 0 0 0 1 0 19
Institute of Human Genetics,University of Wuerzburg 0 2 2 0 0 0 0 4
Central Haematology Laboratory,Luzerner Kantonsspital 2 0 1 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 0 2
Nöthen Lab, Institute of Human Genetics,University Hospital Bonn 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Division of Rheumatology, Allergy and Immunology, UCSD 0 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 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 1 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 1
ATS GeneTech Pvt Ltd 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 1

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