ClinVar Miner

Variants studied for coagulation protein disease

Included ClinVar conditions (69):
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 association established risk allele pathogenic, low penetrance risk factor not provided total
1061 670 1664 1116 453 3 1 1 2 3 34 4538

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance risk factor not provided total
F5 53 30 203 505 98 0 0 1 1 1 3 764
VWF 214 175 305 57 65 0 0 0 0 1 19 702
F8 374 166 104 29 26 0 0 0 0 0 1 652
F9 161 62 49 196 45 0 1 0 0 0 3 471
F2 24 9 43 201 18 0 0 0 1 1 0 279
F11 42 114 122 11 19 0 0 0 0 0 1 267
GGCX 4 3 127 16 29 0 0 0 0 0 1 180
F7 31 44 97 8 6 0 0 0 0 0 2 168
F13A1 26 12 65 7 17 0 0 0 0 0 0 123
MCFD2 8 3 75 6 25 0 0 0 0 0 0 115
FGB 10 2 64 5 21 0 0 0 0 0 0 100
LMAN1 5 1 68 7 14 0 0 0 0 0 0 95
F10 18 22 44 3 7 0 0 0 0 0 0 89
SERPINE1 2 0 52 9 14 0 0 0 0 0 3 78
FGA 14 8 37 8 6 0 0 0 0 0 0 70
F13B 6 1 48 2 4 0 0 0 0 0 0 61
PLG 9 2 28 7 9 0 0 0 0 0 0 53
FGG 14 7 27 3 4 0 0 0 0 0 0 51
F12 4 3 30 6 6 0 0 0 0 0 0 46
THBD 5 0 33 2 0 0 0 0 0 0 0 40
VKORC1 1 0 13 4 5 0 0 0 0 0 0 23
KLKB1 9 4 1 2 2 0 0 0 0 0 0 17
F12, SLC34A1 1 0 0 10 3 0 0 0 0 0 0 14
GP1BA 6 2 3 0 2 0 0 0 0 0 1 13
F10, F7 0 0 0 10 2 0 0 0 0 0 0 12
KNG1 5 0 1 0 0 3 0 0 0 0 0 9
GGCX, MAT2A 0 0 6 1 1 0 0 0 0 0 0 8
LOC129933675, MCFD2 0 0 7 0 1 0 0 0 0 0 0 8
LMAN1, LOC130062607 1 0 3 0 2 0 0 0 0 0 0 6
GGCX, LOC129934217 0 0 3 0 0 0 0 0 0 0 0 3
GP1BA, LOC130060044 0 0 3 0 0 0 0 0 0 0 0 3
LOC126859861, PLG 2 0 1 0 2 0 0 0 0 0 0 3
SERPINF2 3 0 0 0 0 0 0 0 0 0 0 3
ADPRHL1, ANKRD10, ARHGEF7, ATP11A, ATP11AUN, ATP4B, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, LAMP1, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00452, LINC00454, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01070, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370362, LOC107992391, LOC110121336, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090172, LOC132090173, LOC132090174, MCF2L, MIR4502, MIR548AR, MIR8073, MIR8075, MYO16, NAXD, PCID2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TFDP1, TMCO3, TMEM255B, TUBGCP3, UPF3A 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, CARS2, COL4A1, COL4A2, F10, F7, ING1, LINC00567, MCF2L, NAXD, RAB20, SOX1, SPACA7, TEX29, TUBGCP3 0 1 0 0 0 0 0 0 0 0 0 1
AP1S1, MOGAT3, NAT16, PLOD3, SERPINE1, TRIM56, VGF 0 0 1 0 0 0 0 0 0 0 0 1
ATP11C, CXorf66, F9, MCF2, SOX3 1 0 0 0 0 0 0 0 0 0 0 1
ATP11C, F9, MCF2 0 0 1 0 0 0 0 0 0 0 0 1
CFI 0 0 1 0 0 0 0 0 0 0 0 1
CYP4V2, DBET, DUX4, F11, FAT1, FRG1, FRG1-DT, FRG2, KLKB1, LINC01060, LINC01262, LINC01596, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC121725196, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC129389253, LOC129993527, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090718, LOC339975, MTNR1A, TRIML1, TRIML2, ZFP42 0 1 0 0 0 0 0 0 0 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 0 0 0 0 0 0 0 1
F8, F8A1, FUNDC2, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, MIR1184-1, MPP1, SMIM9 1 0 0 0 0 0 0 0 0 0 0 1
F8, F8A1, H2AB1 1 0 0 0 0 0 0 0 0 0 0 1
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1 1 0 0 0 0 0 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 0 0 0 0 0 1
F8, FUNDC2, LOC130068894 1 0 0 0 0 0 0 0 0 0 0 1
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 1
F8, LOC126863349, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 1
F8, LOC130068891, LOC130068892 1 0 0 0 0 0 0 0 0 0 0 1
FGG, LOC114827822 0 0 1 0 0 0 0 0 0 0 0 1
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1 0 1 0 0 0 0 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association established risk allele pathogenic, low penetrance risk factor not provided total
Illumina Laboratory Services, Illumina 16 8 1006 244 258 0 0 0 0 0 0 1479
Invitae 123 35 64 814 141 0 1 0 1 0 0 1179
OMIM 554 0 1 0 0 3 0 0 0 0 0 558
NIHR Bioresource Rare Diseases, University of Cambridge 75 151 72 1 0 0 0 0 0 0 0 298
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 142 66 66 4 3 0 0 0 0 0 0 280
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 49 101 124 3 0 0 0 0 0 0 0 273
Fulgent Genetics, Fulgent Genetics 32 18 70 35 15 0 0 0 0 0 0 170
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 24 29 108 3 2 0 0 0 0 0 0 166
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 70 50 23 9 8 0 0 0 0 0 0 160
Genetics and Molecular Pathology, SA Pathology 35 51 34 2 1 0 0 0 0 0 0 123
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 76 34 0 0 0 0 0 0 0 0 0 110
Genome-Nilou Lab 0 2 0 4 95 0 0 0 0 0 0 101
Laboratory of Hematology, Radboud University Medical Center 53 20 19 2 1 0 0 0 0 0 0 95
Counsyl 4 56 32 2 0 0 0 0 0 0 0 94
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 31 0 0 0 15 0 0 0 0 0 0 46
3billion 22 13 7 0 0 0 0 0 0 0 0 42
Natera, Inc. 3 0 5 25 8 0 0 0 0 0 0 41
Mendelics 16 4 6 2 6 0 0 0 0 0 0 34
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 9 21 0 0 0 0 0 0 0 0 34
Baylor Genetics 9 6 18 0 0 0 0 0 0 0 0 33
Revvity Omics, Revvity 12 12 5 0 0 0 0 0 0 0 0 29
GeneReviews 0 0 0 0 1 0 0 0 0 0 28 29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 17 1 0 0 0 0 0 0 1 0 25
Neuberg Centre For Genomic Medicine, NCGM 4 8 13 0 0 0 0 0 0 0 0 25
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 9 7 0 0 0 0 0 0 0 0 22
Myriad Genetics, Inc. 0 14 2 0 0 0 0 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 6 0 0 0 0 0 0 0 0 11
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 10 1 0 0 0 0 0 0 0 0 0 11
Versiti Diagnostic Laboratories, Versiti, Inc 8 0 0 1 1 0 0 0 0 0 0 10
Department of Laboratory Medicine, Ruijin Hospital 9 0 0 0 1 0 0 0 0 0 0 10
Institute of Human Genetics, University Hospital Muenster 2 4 3 0 0 0 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 3 1 0 0 0 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 3 0 0 0 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 4 1 3 0 0 0 0 0 0 0 0 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 6 0 1 0 0 0 0 0 0 0 0 7
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 4 0 0 0 0 0 0 0 0 7
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 7 0 0 0 0 0 0 0 0 0 7
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 5 0 0 0 0 0 0 0 0 0 7
Reproductive Health Research and Development, BGI Genomics 4 0 0 0 1 0 0 0 0 1 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 4 0 0 0 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 3 0 0 0 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 2 1 0 0 0 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 1 0 0 0 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 1 0 0 0 0 1 0 0 0 4
Biochemistry Laboratory, Bechir Hamza Children's Hospital 4 0 0 0 0 0 0 0 0 0 0 4
New York Genome Center 1 2 1 0 0 0 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 3 0 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 0 0 0 0 3
Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 0 3 0 0 0 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 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 3 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 0 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 2 0 0 0 0 0 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 0 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 0 0 0 0 0 2
Variantyx, Inc. 1 0 0 0 0 0 0 0 1 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 0 0 0 2
Laboratory of Genetic Engineering, National Medical Research Center for Hematology 0 1 0 1 0 0 0 0 0 0 0 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 0 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 0 0 0 0 1
SNPedia 0 0 0 0 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 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 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 0 0 1
Genatak 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 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 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 0 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 0 0 1 0 0 0 0 0 0 0 0 1

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