ClinVar Miner

Variants studied for coagulation protein disease

Included ClinVar conditions (42):
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
573 81 498 221 50 3 1 2 1411

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
F8 261 5 2 0 4 0 0 0 271
VWF 45 4 77 50 0 0 0 0 175
F5 13 2 90 50 0 0 1 0 155
F11 23 59 57 10 6 0 0 0 144
F9 101 5 3 0 6 0 0 1 115
MCFD2 8 0 50 16 3 0 0 0 77
F7 23 3 35 3 2 0 0 0 66
F13A1 21 1 26 14 1 0 0 0 62
LMAN1 5 0 34 13 1 0 0 0 53
FGB 7 0 26 13 6 0 0 0 52
SERPINE1 4 0 25 8 4 0 0 0 40
F12, SLC34A1 2 1 6 23 7 0 0 0 38
F10 14 0 14 3 1 0 0 0 32
F13B 4 0 24 1 3 0 0 0 32
FGA 6 0 12 5 3 0 0 0 26
FGG 5 0 8 2 1 0 0 0 16
F10, F7 0 0 0 10 2 0 0 0 12
PLG 6 0 2 0 0 0 0 0 8
THBD 5 0 2 0 0 0 0 0 7
KLKB1 5 1 0 0 0 0 0 0 6
GGCX 4 0 1 0 0 0 0 0 5
GP1BA 2 0 1 0 0 0 0 1 4
KNG1 0 0 1 0 0 3 0 0 4
F2 3 0 0 0 0 0 0 0 3
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
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: 31
Download table as spreadsheet
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
Counsyl 4 56 33 2 0 0 0 0 95
Invitae 12 2 6 0 6 0 0 0 26
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
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
Institute of Basic Medical Sciences,Khyber Medical University, Peshawar 0 3 0 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
Molecular Genetics and Enzymology,National Research Centre 2 0 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 Miraca Genetics Laboratories, 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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

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