ClinVar Miner

Variants studied for coagulation protein disease

Included ClinVar conditions (45):
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
631 248 582 223 61 3 1 2 1705

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
F8 291 50 16 1 16 0 0 0 368
VWF 54 60 114 50 0 0 0 0 274
F5 14 13 96 50 0 0 1 0 171
F11 30 75 69 10 6 0 0 0 170
F9 107 16 4 0 2 0 0 1 127
F7 23 17 38 3 2 0 0 0 83
MCFD2 8 2 51 16 3 0 0 0 79
F13A1 21 5 26 14 1 0 0 0 66
LMAN1 5 1 35 13 1 0 0 0 55
FGB 9 0 26 13 6 0 0 0 54
F10 14 6 20 3 1 0 0 0 43
SERPINE1 4 0 25 8 4 0 0 0 40
F12, SLC34A1 2 1 6 23 8 0 0 0 38
F13B 5 0 24 1 3 0 0 0 33
FGA 7 0 12 5 3 0 0 0 27
FGG 6 0 8 2 1 0 0 0 17
F10, F7 0 0 0 10 2 0 0 0 12
PLG 6 1 5 0 1 0 0 0 11
THBD 5 0 2 0 0 0 0 0 7
KLKB1 5 1 0 0 1 0 0 0 6
GGCX 4 0 1 0 0 0 0 0 5
F2 3 1 0 0 0 0 0 0 4
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
FGG, LOC114827822 0 0 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 0 1
VKORC1 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 13 6 443 220 40 0 0 0 722
OMIM 535 0 1 0 0 3 0 0 539
NIHR Bioresource Rare Diseases, University of Cambridge 75 151 72 0 0 0 0 0 297
Counsyl 4 56 33 2 0 0 0 0 95
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 26 14 8 1 12 0 0 0 61
Invitae 12 2 6 0 1 0 0 0 21
Mendelics 3 4 5 2 6 0 0 0 20
Fulgent Genetics,Fulgent Genetics 9 2 4 0 0 0 0 0 15
GeneReviews 5 0 0 0 4 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 6 0 1 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 4 0 0 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 3 0 0 0 0 1 0 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 3 2 0 0 0 0 0 0 5
Reproductive Health Research and Development,BGI Genomics 4 0 0 0 1 0 0 0 5
Biochemistry Laboratory,Bechir Hamza Children's Hospital 4 0 0 0 0 0 0 0 4
Mayo Clinic Genetic Testing 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
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
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 0 2
Molecular Genetics and Enzymology,National Research Centre 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 0 2
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 2 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 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
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

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