ClinVar Miner

Variants studied for hemophilia A

Included ClinVar conditions (4):
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 not provided total
402 180 120 30 28 1 709

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
F8 381 170 113 29 28 1 670
F9 10 10 1 0 0 0 21
ACVRL1 2 0 1 0 0 0 3
F8, F8A1, H2AB1 2 0 0 0 0 0 2
ABCB7, ABCD1, ACSL4, ACTRT1, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CAPN6, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CDX4, CENPI, CETN2, CHIC1, CHM, CHRDL1, CITED1, CLDN2, CLIC2, CMC4, CNGA2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CUL4B, CXCR3, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf65, CXorf66, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DGAT2L6, DIAPH2, DKC1, DLG3, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP9, EDA, EDA2R, EFNB1, ELF4, EMD, ENOX2, EOLA1, EOLA2, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM133A, FAM199X, FAM3A, FAM50A, FATE1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FOXR2, FRMD7, FRMPD3, FTX, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GCNA, GDI1, GDPD2, GJB1, GLA, GLUD2, GPC3, GPC4, GPR101, GPR119, GPR174, GPR50, GPRASP1, GPRASP2, GPRASP3, GRIA3, GUCY2F, H2AB1, H2AB2, H2AB3, H2BW1, H2BW2, HAUS7, HCFC1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INTS6L, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JPX, KCNE5, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, L1CAM, LAGE3, LAMP2, LAS1L, LDOC1, LHFPL1, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAGED2, MAGEE1, MAGEE2, MAGEH1, MAGT1, MAMLD1, MAP7D3, MBNL3, MCF2, MCTS1, MECP2, MED12, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, MIR424, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MORC4, MORF4L2, MOSPD1, MPP1, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NALF2, NAP1L2, NAP1L3, NDUFA1, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NSDHL, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE2, PAGE2B, PAGE3, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHKA1, PIN4, PJA1, PLAC1, PLP1, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POU3F4, PRPS1, PRR32, PRRG3, PSMD10, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM41, RBMX, RBMX2, RBMXL3, RENBP, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RLIM, RNF113A, RNF128, RPA4, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SNORA11, SNX12, SOWAHD, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX2, SSR4, STAG2, STARD8, STEEP1, STK26, SYTL4, TAF1, TAF7L, TAF9B, TAFAZZIN, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TGIF2LX, THOC2, TIMM8A, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP26, USP51, UTP14A, VBP1, VCF2, VGLL1, VMA21, VSIG1, VSIG4, WDR44, XIAP, XIST, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZIC3, ZMAT1, ZMYM3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF711, ZNF75D, ZXDA, ZXDB 0 0 1 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 1
F8, F8A1, H2AB1, LOC106146143, LOC106146150, LOC125467795, LOC126863349, LOC130068891, LOC130068892, MIR1184-1 1 0 0 0 0 0 1
F8, F8A1, LOC106146150 0 0 0 1 0 0 1
F8, FUNDC2, LOC130068894 1 0 0 0 0 0 1
F8, H2AB1 0 0 1 0 0 0 1
F8, LOC106146143, LOC125467795, LOC130068891, LOC130068892 1 0 0 0 0 0 1
F8, LOC126863349, LOC130068891, LOC130068892 1 0 0 0 0 0 1
F8, LOC130068891, LOC130068892 1 0 0 0 0 0 1
FLNA, LOC107988032, LOC129929050, LOC129929051, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, OPN1MW, OPN1MW2, OPN1MW3, TEX28, TKTL1 1 0 0 0 0 0 1
H2AB3, TMLHE 0 0 1 0 0 0 1
LMAN1 0 0 1 0 0 0 1
VWF 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 262 0 0 0 0 0 262
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 64 48 22 9 8 0 151
Illumina Laboratory Services, Illumina 1 1 32 17 15 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 12 0 0 0 0 64
Genetics and Molecular Pathology, SA Pathology 16 24 11 1 0 0 52
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 27 9 5 0 8 0 49
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 6 18 0 0 0 32
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 27 4 0 0 0 0 31
Fulgent Genetics, Fulgent Genetics 9 9 5 1 1 0 25
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 7 15 3 0 0 0 25
NIHR Bioresource Rare Diseases, University of Cambridge 10 11 1 1 0 0 23
3billion, Medical Genetics 12 10 1 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 2 8 6 0 0 0 16
Mendelics 3 4 3 1 3 0 14
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 5 2 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 5 1 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 3 0 0 0 9
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 6 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 1 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University 0 0 3 0 0 0 3
Versiti Diagnostic Laboratories, Versiti, Inc 1 0 0 1 0 0 2
GeneReviews 0 0 0 0 1 1 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Molecular Genetics and Enzymology, National Research Centre 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 2 0 0 0 0 2
Pediatric Intensive Care Unit, Shengjing Hospital of China Medical University 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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