ClinVar Miner

Variants studied for urticaria

Included ClinVar conditions (23):
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
222 76 81 46 83 1 20 515

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SERPING1 205 73 32 14 43 0 0 360
F12 3 1 16 10 19 0 0 46
PLG 2 0 20 8 9 0 1 39
F12, SLC34A1 1 0 0 10 5 0 0 14
KIT 5 1 4 3 0 0 0 12
ADGRE2 1 0 2 1 5 0 0 9
KNG1 2 0 1 0 0 0 2 5
ANGPT1 1 0 2 0 0 0 0 3
MYOF 1 1 0 0 1 0 0 3
ACE 0 0 0 0 0 0 2 2
HS3ST6 1 0 1 0 0 0 0 2
KLK3 0 0 0 0 0 0 2 2
SERPINA1 0 0 0 0 0 0 2 2
XPNPEP2 0 0 1 0 0 1 0 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
KRT1 0 0 0 0 0 0 1 1
LOC106694315, MPO 0 0 0 0 0 0 1 1
LOC126859861, PLG 0 0 0 0 1 0 0 1
LOC126862264, MEFV 0 0 1 0 0 0 0 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

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 127 52 3 1 0 0 0 183
Illumina Laboratory Services, Illumina 0 0 32 26 34 0 0 90
CeMIA 1 1 3 6 36 0 20 67
Fulgent Genetics, Fulgent Genetics 2 0 22 15 3 0 0 42
Peking Union Medical College Hospital 24 10 1 0 0 0 0 35
OMIM 31 0 0 0 0 1 0 32
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 0 0 32
Genome-Nilou Lab 0 0 0 0 14 0 0 14
Division of Rheumatology, Allergy and Immunology, UCSD 7 1 2 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 1 1 0 0 7
Dr.Nikuei Genetic Center 0 0 0 0 5 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 2 2 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 3 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
Central Haematology Laboratory, Luzerner Kantonsspital 2 0 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 2
Nöthen Lab, Institute of Human Genetics, University Hospital Bonn 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 2 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 1
Bioserve Biotechnologies India Pvt Ltd 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 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 0 1
Suma Genomics 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1

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