ClinVar Miner

Variants in gene combination HBB, LOC107133510, LOC110006319

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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
51 12 63 19 13 105 2 214

Condition and significance breakdown #

Total conditions: 134
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not specified 6 0 31 10 11 0 0 57
not provided 17 5 29 9 2 0 2 56
beta Thalassemia 19 6 6 6 3 0 0 37
Erythrocytosis 6, familial 12 0 0 0 0 0 0 12
Beta-plus-thalassemia 9 0 0 0 0 0 0 9
Hemoglobinopathy 7 1 0 0 0 0 0 8
beta^0^ Thalassemia 5 0 0 0 0 0 0 5
Hb SS disease 2 0 2 0 0 0 0 4
Beta thalassemia intermedia 3 0 0 0 0 0 0 3
Beta thalassemia major 2 0 0 0 0 0 0 2
Beta-thalassemia, dominant inclusion body type 2 0 0 0 0 0 0 2
Fetal hemoglobin quantitative trait locus 1 0 0 2 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 inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial 1 0 0 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 TUBINGEN 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
Sickle cell-Hemoglobin O Arab disease 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
OMIM 35 0 0 0 2 105 0 126
Integrated Genetics/Laboratory Corporation of America 16 2 44 8 1 0 0 71
Quest Diagnostics Nichols Institute San Juan Capistrano 13 2 22 3 0 0 0 40
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 8 1 4 9 8 0 0 30
Counsyl 5 5 0 1 0 0 0 11
GeneReviews 11 0 0 0 0 0 0 11
PreventionGenetics 0 0 0 3 5 0 0 8
Invitae 4 2 0 0 0 0 0 6
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 3 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 1 2 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
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
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1 0 0 0 0 0 0 1

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