ClinVar Miner

Variants in gene combination HBB, LOC107133510, LOC110006319

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Minimum submission review status: Collection method:
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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 other not provided total
95 22 94 188 34 104 2 432

Condition and significance breakdown #

Total conditions: 139
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 25 5 46 169 17 0 2 248
not specified 10 3 52 17 13 0 0 91
beta Thalassemia 54 9 11 7 16 0 0 84
none provided 11 1 3 13 8 0 0 36
Hb SS disease 11 2 6 0 0 0 0 18
Beta-plus-thalassemia 13 0 0 0 0 0 0 13
Erythrocytosis 6, familial 13 0 0 0 0 0 0 13
Hemoglobinopathy 8 4 0 0 0 0 0 12
beta^0^ Thalassemia 9 0 0 0 0 0 0 9
Fetal hemoglobin quantitative trait locus 1 0 0 7 0 0 0 0 7
Hemoglobin E 0 0 6 0 1 0 0 7
Beta thalassemia intermedia 3 0 0 0 0 0 0 3
Beta thalassemia major 3 0 0 0 0 0 0 3
Beta-thalassemia, dominant inclusion body type 2 0 0 0 0 0 0 2
Beta-Houston-thalassemia 1 0 0 0 0 0 0 1
Beta-plus-thalassemia, dominant 1 0 0 0 0 0 0 1
Beta-showa-yakushiji thalassemia 1 0 0 0 0 0 0 1
Beta-thalassemia dominant 1 0 0 0 0 0 0 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis 6, familial 1 0 0 0 0 0 0 1
Delta-beta thalassemia 0 0 1 0 0 0 0 1
HBB-Related Disorders 0 1 0 0 0 0 0 1
HEMOGLOBIN 'T LANGE LAND 0 0 0 0 0 1 0 1
HEMOGLOBIN ABRUZZO 0 0 0 0 0 1 0 1
HEMOGLOBIN ALTDORF 0 0 0 0 0 1 0 1
HEMOGLOBIN ANDREW-MINNEAPOLIS 0 0 0 0 0 1 0 1
HEMOGLOBIN AURORA 0 0 0 0 0 1 0 1
HEMOGLOBIN BARBIZON 0 0 0 0 0 1 0 1
HEMOGLOBIN BECKMAN 0 0 0 0 0 1 0 1
HEMOGLOBIN BEIRUT 0 0 0 0 0 1 0 1
HEMOGLOBIN BEOGRAD 0 0 0 0 0 1 0 1
HEMOGLOBIN BETHESDA 0 0 0 0 0 1 0 1
HEMOGLOBIN BIRMINGHAM 0 0 0 0 0 1 0 1
HEMOGLOBIN BOLOGNA-ST. ORSOLA 0 0 0 0 0 1 0 1
HEMOGLOBIN BOUGARDIREY-MALI 0 0 0 0 0 1 0 1
HEMOGLOBIN BRESCIA 0 0 0 0 0 1 0 1
HEMOGLOBIN BREST 0 0 0 0 0 1 0 1
HEMOGLOBIN BROCKTON 0 0 0 0 0 1 0 1
HEMOGLOBIN BURKE 0 0 0 0 0 1 0 1
HEMOGLOBIN BUSHEY 0 0 0 0 0 1 0 1
HEMOGLOBIN BUZEN 0 0 0 0 0 1 0 1
HEMOGLOBIN CANTERBURY 0 0 0 0 0 1 0 1
HEMOGLOBIN CASPER 0 0 0 0 0 1 0 1
HEMOGLOBIN COCHIN-PORT ROYAL 0 0 0 0 0 1 0 1
HEMOGLOBIN COMPLUTENSE 0 0 0 0 0 1 0 1
HEMOGLOBIN COVENTRY 0 0 0 0 0 1 0 1
HEMOGLOBIN COWTOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN CRANSTON 0 0 0 0 0 1 0 1
HEMOGLOBIN CRETE 0 0 0 0 0 1 0 1
HEMOGLOBIN D (CAMPERDOWN) 0 0 0 0 0 1 0 1
HEMOGLOBIN D (NEATH) 0 0 0 0 0 1 0 1
HEMOGLOBIN DEACONESS 0 0 0 0 0 1 0 1
HEMOGLOBIN DIEPPE 0 0 0 0 0 1 0 1
HEMOGLOBIN DURHAM-N.C. 0 0 0 0 0 1 0 1
HEMOGLOBIN EGYPT 0 0 0 0 0 1 0 1
HEMOGLOBIN ERNZ 0 0 0 0 0 1 0 1
HEMOGLOBIN EXTREMADURA 0 0 0 0 0 1 0 1
HEMOGLOBIN FANNIN-LUBBOCK 0 0 0 0 0 1 0 1
HEMOGLOBIN GEELONG 0 0 0 0 0 1 0 1
HEMOGLOBIN HACETTEPE 0 0 0 0 0 1 0 1
HEMOGLOBIN HAFNIA 0 0 0 0 0 1 0 1
HEMOGLOBIN HARROW 0 0 0 0 0 1 0 1
HEMOGLOBIN HIJIYAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN HIMEJI 0 0 0 0 0 1 0 1
HEMOGLOBIN HINSDALE 0 0 0 0 0 1 0 1
HEMOGLOBIN HIROSHIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN HOFU 0 0 0 0 0 1 0 1
HEMOGLOBIN INDIANAPOLIS 0 0 0 0 0 1 0 1
HEMOGLOBIN IOWA 0 0 0 0 0 1 0 1
HEMOGLOBIN J (GUANTANAMO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (TAICHUNG) 0 0 0 0 0 1 0 1
HEMOGLOBIN JIANGHUA 0 0 0 0 0 1 0 1
HEMOGLOBIN JINAN 0 0 0 0 0 1 0 1
HEMOGLOBIN JOHNSTOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN K (CAMEROON) 0 0 0 0 0 1 0 1
HEMOGLOBIN K (WOOLWICH) 0 0 0 0 0 1 0 1
HEMOGLOBIN KHARTOUM 0 0 0 0 0 1 0 1
HEMOGLOBIN KOCHI 0 0 0 0 0 1 0 1
HEMOGLOBIN KODAIRA 0 0 0 0 0 1 0 1
HEMOGLOBIN KODAIRA II 0 0 0 0 0 1 0 1
HEMOGLOBIN LA DESIRADE 0 0 0 0 0 1 0 1
HEMOGLOBIN LESLIE 0 0 0 0 0 1 0 1
HEMOGLOBIN MADRID 0 0 0 0 0 1 0 1
HEMOGLOBIN MASUDA 0 0 0 0 0 1 0 1
HEMOGLOBIN MCKEES ROCKS 0 0 0 0 0 1 0 1
HEMOGLOBIN MINNEAPOLIS-LAOS 0 0 0 0 0 1 0 1
HEMOGLOBIN MITO 0 0 0 0 0 1 0 1
HEMOGLOBIN MOLFETTA 0 0 0 0 0 1 0 1
HEMOGLOBIN MONT SAINT-AIGNAN 0 0 0 0 0 1 0 1
HEMOGLOBIN NEVERS 0 0 0 0 0 1 0 1
HEMOGLOBIN NIJKERK 0 0 0 0 0 1 0 1
HEMOGLOBIN O (ARAB) 0 0 0 0 0 1 0 1
HEMOGLOBIN OHIO 0 0 0 0 0 1 0 1
HEMOGLOBIN OLMSTED 0 0 0 0 0 1 0 1
HEMOGLOBIN P 0 0 0 0 0 1 0 1
HEMOGLOBIN P (GALVESTON) 0 0 0 0 0 1 0 1
HEMOGLOBIN PETERBOROUGH 0 0 0 0 0 1 0 1
HEMOGLOBIN PRESBYTERIAN 0 0 0 0 0 1 0 1
HEMOGLOBIN PUTTELANGE 0 0 0 0 0 1 0 1
HEMOGLOBIN RAINIER 0 0 0 0 0 1 0 1
HEMOGLOBIN RANCHO MIRAGE 0 0 0 0 0 1 0 1
HEMOGLOBIN RENERT 0 0 0 0 0 1 0 1
HEMOGLOBIN SAGAMI 0 0 0 0 0 1 0 1
HEMOGLOBIN SAINT JACQUES 0 0 0 0 0 1 0 1
HEMOGLOBIN SAITAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN SAN DIEGO 0 0 0 0 0 1 0 1
HEMOGLOBIN SARREBOURG 0 0 0 0 0 1 0 1
HEMOGLOBIN SAVERNE 0 0 0 0 0 1 0 1
HEMOGLOBIN SHANGHAI 0 0 0 0 0 1 0 1
HEMOGLOBIN SHELBY 0 0 0 0 0 1 0 1
HEMOGLOBIN SHOWA-YAKUSHIJI 0 0 0 0 0 1 0 1
HEMOGLOBIN SILVER SPRINGS 0 0 0 0 0 1 0 1
HEMOGLOBIN SITIA 0 0 0 0 0 1 0 1
HEMOGLOBIN SOUTH MILWAUKEE 0 0 0 0 0 1 0 1
HEMOGLOBIN SOUTHAMPTON 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. FRANCIS 0 0 0 0 0 1 0 1
HEMOGLOBIN STANMORE 0 0 0 0 0 1 0 1
HEMOGLOBIN SYRACUSE 0 0 0 0 0 1 0 1
HEMOGLOBIN TAK 0 0 0 0 0 1 0 1
HEMOGLOBIN TAKAMATSU 0 0 0 0 0 1 0 1
HEMOGLOBIN TENDE 0 0 0 0 0 1 0 1
HEMOGLOBIN TERRE HAUTE 0 0 0 0 0 1 0 1
HEMOGLOBIN TOYOAKE 0 0 0 0 0 1 0 1
HEMOGLOBIN TRENTO 0 0 0 0 0 1 0 1
HEMOGLOBIN TSUKUMI 0 0 0 0 0 1 0 1
HEMOGLOBIN TUNIS 0 0 0 0 0 1 0 1
HEMOGLOBIN TY GARD 0 0 0 0 0 1 0 1
HEMOGLOBIN VILLEJUIF 0 0 0 0 0 1 0 1
HEMOGLOBIN WIEN 0 0 0 0 0 1 0 1
HEMOGLOBIN YAHATA 0 0 0 0 0 1 0 1
HEMOGLOBIN YAMAGATA 0 0 0 0 0 1 0 1
HEMOGLOBIN YAOUNDE 0 0 0 0 0 1 0 1
HEMOGLOBIN YORK 0 0 0 0 0 1 0 1
HEMOGLOBIN YOSHIZUKA 0 0 0 0 0 1 0 1
HEMOGLOBIN ZENGCHENG 0 0 0 0 0 1 0 1
Hb D-Los Angeles 0 0 0 0 0 1 0 1
Heinz body anemia 1 0 0 0 0 0 0 1
Hemoglobin D disease 1 0 0 0 0 0 0 1
Methemoglobinemia, beta-globin type 1 0 0 0 0 0 0 1
Sickle cell-Hemoglobin O Arab disease 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 11 1 0 165 17 0 0 194
OMIM 46 0 0 0 2 104 0 136
Integrated Genetics/Laboratory Corporation of America 22 6 52 13 2 0 0 95
Quest Diagnostics Nichols Institute San Juan Capistrano 18 4 44 6 3 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 19 4 10 20 12 0 0 65
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 41 0 0 0 10 0 0 51
Natera, Inc. 1 0 4 1 7 0 0 13
Baylor Genetics 11 1 0 0 0 0 0 12
Counsyl 4 6 0 1 0 0 0 11
GeneReviews 11 0 0 0 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 3 5 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 1 8 0 1 0 0 8
Myriad Women's Health, Inc. 4 1 0 0 0 0 0 5
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 3 0 0 4
Mendelics 0 0 0 1 2 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 0 0 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 0 2
GeneDx 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Miller Lab NIH/NIDDK 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 0 0 0 0 1 0 0 1
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1

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