ClinVar Miner

Variants studied for coagulation protein disease

Included ClinVar conditions (50):
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 affects risk factor not provided total
774 332 1300 319 314 3 1 3 2887

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
F8 322 74 67 23 28 0 0 0 497
VWF 136 99 188 53 6 0 0 0 472
F5 16 14 164 87 62 0 1 0 270
F9 123 23 28 41 29 0 0 1 231
F11 31 76 103 7 18 0 0 1 213
GGCX 4 2 129 16 29 0 0 0 180
F7 25 22 70 7 6 0 0 0 128
MCFD2 8 2 82 6 26 0 0 0 123
F13A1 22 5 59 7 12 0 0 0 103
LMAN1 5 1 71 7 16 0 0 0 100
FGB 9 1 55 4 21 0 0 0 89
SERPINE1 4 0 51 9 14 0 0 0 77
F10 15 6 41 3 5 0 0 0 68
F13B 8 0 45 2 4 0 0 0 59
F12, SLC34A1 3 1 26 16 9 0 0 0 53
F2 3 5 31 6 11 0 0 0 51
FGA 8 0 32 6 4 0 0 0 50
FGG 6 0 23 3 4 0 0 0 35
VKORC1 1 0 13 4 5 0 0 0 23
PLG 7 1 9 0 1 0 0 0 16
F10, F7 0 0 0 10 2 0 0 0 12
GGCX, MAT2A 0 0 6 1 1 0 0 0 8
THBD 5 0 3 0 0 0 0 0 8
KLKB1 5 1 0 0 1 0 0 0 6
GP1BA 2 0 1 0 0 0 0 1 4
KNG1 0 0 1 0 0 3 0 0 4
SERPINF2 3 0 0 0 0 0 0 0 3
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF 0 0 1 0 0 0 0 0 1
ATP11C, CXorf66, F9, MCF2, SOX3 1 0 0 0 0 0 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 0 0 1
F8, FUNDC2 1 0 0 0 0 0 0 0 1
FGG, LOC114827822 0 0 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 14 7 1006 244 259 0 0 0 1477
OMIM 537 0 1 0 0 3 0 0 541
NIHR Bioresource Rare Diseases, University of Cambridge 75 151 72 1 0 0 0 0 298
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 119 45 34 2 1 0 0 0 201
Invitae 27 7 13 61 50 0 0 0 158
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 16 14 94 3 0 0 0 0 127
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 48 29 13 4 18 0 0 0 112
Counsyl 4 56 33 2 0 0 0 0 95
Baylor Genetics 5 2 16 0 0 0 0 0 23
Mendelics 3 4 5 2 6 0 0 0 20
Fulgent Genetics,Fulgent Genetics 9 2 4 0 0 0 0 0 15
Natera, Inc. 1 0 3 3 5 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 6 0 0 0 0 1 0 11
Versiti Diagnostic Laboratories,Versiti, Inc 8 0 0 1 1 0 0 0 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 3 1 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 3 0 0 0 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 6 0 1 0 0 0 0 0 7
GeneReviews 5 0 0 0 2 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 4 0 0 0 0 0 7
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 3 0 0 0 0 0 0 5
Reproductive Health Research and Development,BGI Genomics 4 0 0 0 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 1 0 0 0 0 0 4
Biochemistry Laboratory,Bechir Hamza Children's Hospital 4 0 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 3 0 0 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 3
Institute of Basic Medical Sciences,Khyber Medical University, Peshawar 0 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 1 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 2
Laboratory of Genetic Engineering, National Research Center for Hematology 0 1 0 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 1 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 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 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
Genatak 1 0 0 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 0 1
Hematology and Blood Transfusion,Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 1

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