ClinVar Miner

Variants in gene combination HBA1, LOC106804613

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Gene type:
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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
36 16 64 41 10 184 2 280

Condition and significance breakdown #

Total conditions: 249
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 18 10 49 38 9 0 1 106
alpha Thalassemia 12 6 12 1 6 0 1 37
not specified 1 1 8 3 2 0 0 15
Erythrocytosis, familial, 7 10 1 0 0 0 0 0 11
HBA1-related condition 2 0 0 6 0 0 0 8
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7 5 1 0 0 0 0 0 6
Alpha-thalassemia, Dutch type 2 0 0 0 0 0 0 2
Hemoglobin H disease, nondeletional 2 0 0 0 0 0 0 2
HEMOGLOBIN ADANA 0 0 0 0 0 1 0 1
HEMOGLOBIN AGHIA SOPHIA 0 0 0 0 0 1 0 1
HEMOGLOBIN AICHI 0 0 0 0 0 1 0 1
HEMOGLOBIN AIDA 0 0 0 0 0 1 0 1
HEMOGLOBIN AL-AIN ABU DHABI 0 0 0 0 0 1 0 1
HEMOGLOBIN ALBANY-GEORGIA 0 0 0 0 0 1 0 1
HEMOGLOBIN ALBANY-SUMA 0 0 0 0 0 1 0 1
HEMOGLOBIN ANANTHARAJ 0 0 0 0 0 1 0 1
HEMOGLOBIN ANN ARBOR 0 0 0 0 0 1 0 1
HEMOGLOBIN ARYA 0 0 0 0 0 1 0 1
HEMOGLOBIN ASABARA 0 0 0 0 0 1 0 1
HEMOGLOBIN ATAGO 0 0 0 0 0 1 0 1
HEMOGLOBIN ATTLEBORO 0 0 0 0 0 1 0 1
HEMOGLOBIN AUCKLAND 0 0 0 0 0 1 0 1
HEMOGLOBIN AZTEC 0 0 0 0 0 1 0 1
HEMOGLOBIN BARI 0 0 0 0 0 1 0 1
HEMOGLOBIN BEIJING 0 0 0 0 0 1 0 1
HEMOGLOBIN BEILINSON 0 0 0 0 0 1 0 1
HEMOGLOBIN BELLIARD 0 0 0 0 0 1 0 1
HEMOGLOBIN BEZIERS 0 0 0 0 0 1 0 1
HEMOGLOBIN BOIS GUILLAUME 0 0 0 0 0 1 0 1
HEMOGLOBIN BOURMEDES 0 0 0 0 0 1 0 1
HEMOGLOBIN BROUSSAIS 0 0 0 0 0 1 0 1
HEMOGLOBIN BUFFALO 0 0 0 0 0 1 0 1
HEMOGLOBIN BUGINESE-X 0 0 0 0 0 1 0 1
HEMOGLOBIN CAEN 0 0 0 0 0 1 0 1
HEMOGLOBIN CAPA 0 0 0 0 0 1 0 1
HEMOGLOBIN CATONSVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN CEMENELUM 0 0 0 0 0 1 0 1
HEMOGLOBIN CHAD 0 0 0 0 0 1 0 1
HEMOGLOBIN CHAPEL HILL 0 0 0 0 0 1 0 1
HEMOGLOBIN CHAROLLES 0 0 0 0 0 1 0 1
HEMOGLOBIN CHESAPEAKE 0 0 0 0 0 1 0 1
HEMOGLOBIN CHIAPAS 0 0 0 0 0 1 0 1
HEMOGLOBIN CHICAGO 0 0 0 0 0 1 0 1
HEMOGLOBIN CHONGQING 0 0 0 0 0 1 0 1
HEMOGLOBIN CONTALDO 0 0 0 0 0 1 0 1
HEMOGLOBIN CORDELE 0 0 0 0 0 1 0 1
HEMOGLOBIN DAGESTAN 0 0 0 0 0 1 0 1
HEMOGLOBIN DANESHGAH-TEHRAN 0 0 0 0 0 1 0 1
HEMOGLOBIN DELFZICHT 0 0 0 0 0 1 0 1
HEMOGLOBIN DENMARK HILL 0 0 0 0 0 1 0 1
HEMOGLOBIN DIE 0 0 0 0 0 1 0 1
HEMOGLOBIN DOUALA 0 0 0 0 0 1 0 1
HEMOGLOBIN DUAN 0 0 0 0 0 1 0 1
HEMOGLOBIN DUNN 0 0 0 0 0 1 0 1
HEMOGLOBIN ETHIOPIA 0 0 0 0 0 1 0 1
HEMOGLOBIN ETOBICOKE 0 0 0 0 0 1 0 1
HEMOGLOBIN EVANSTON 0 0 0 0 0 1 0 1
HEMOGLOBIN F (KOELLIKER) 0 0 0 0 0 1 0 1
HEMOGLOBIN FERNDOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN FONTAINEBLEAU 0 0 0 0 0 1 0 1
HEMOGLOBIN FORT DE FRANCE 0 0 0 0 0 1 0 1
HEMOGLOBIN FORT WORTH 0 0 0 0 0 1 0 1
HEMOGLOBIN FUCHU-I 0 0 0 0 0 1 0 1
HEMOGLOBIN FUCHU-II 0 0 0 0 0 1 0 1
HEMOGLOBIN FUKUTOMI 0 0 0 0 0 1 0 1
HEMOGLOBIN G (AUDHALI) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (FORT WORTH) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (GEORGIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (NORFOLK) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (PEST) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAICHUNG) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (WAIMANALO) 0 0 0 0 0 1 0 1
HEMOGLOBIN GARDEN STATE 0 0 0 0 0 1 0 1
HEMOGLOBIN GODAVARI 0 0 0 0 0 1 0 1
HEMOGLOBIN GOTHENBURG 0 0 0 0 0 1 0 1
HEMOGLOBIN GUANGZHOU 0 0 0 0 0 1 0 1
HEMOGLOBIN GUIZHOU 0 0 0 0 0 1 0 1
HEMOGLOBIN HANDA 0 0 0 0 0 1 0 1
HEMOGLOBIN HANDSWORTH 0 0 0 0 0 1 0 1
HEMOGLOBIN HANGZHOU 0 0 0 0 0 1 0 1
HEMOGLOBIN HARBIN 0 0 0 0 0 1 0 1
HEMOGLOBIN HEKINAN 0 0 0 0 0 1 0 1
HEMOGLOBIN HIKOSHIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN HOBART 0 0 0 0 0 1 0 1
HEMOGLOBIN HOPKINS 2 0 0 0 0 0 1 0 1
HEMOGLOBIN I 0 0 0 0 0 1 0 1
HEMOGLOBIN I (BURLINGTON) 0 0 0 0 0 1 0 1
HEMOGLOBIN I (PHILADELPHIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN I (SKAMANIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN I (TEXAS) 0 0 0 0 0 1 0 1
HEMOGLOBIN IWATA 0 0 0 0 0 1 0 1
HEMOGLOBIN J 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ABIDJAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ALJEZUR) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ANATOLIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BIRMINGHAM) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BISKRA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BROUSSAIS) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CAMAGUEY) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CAPE TOWN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CUBUJUQUI) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (HABANA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (MEDELLIN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (MEERUT) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (MEXICO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (NORFOLK) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (NYANZA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (PARIS 1) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (PARIS 2) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (PONTOISE) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (RAJAPPEN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ROVIGO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (SINGA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (SINGAPORE) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (TASHIKUERGAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (TONGARIKI) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (TORONTO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (WENCHANG-WUMING) 0 0 0 0 0 1 0 1
HEMOGLOBIN JACKSON 0 0 0 0 0 1 0 1
HEMOGLOBIN KAGOSHIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN KARACHI 0 0 0 0 0 1 0 1
HEMOGLOBIN KARIYA 0 0 0 0 0 1 0 1
HEMOGLOBIN KAWACHI 0 0 0 0 0 1 0 1
HEMOGLOBIN KOELLIKER 0 0 0 0 0 1 0 1
HEMOGLOBIN KOKURA 0 0 0 0 0 1 0 1
HEMOGLOBIN KURASHIKI 0 0 0 0 0 1 0 1
HEMOGLOBIN L (GASLINI) 0 0 0 0 0 1 0 1
HEMOGLOBIN L (PERSIAN GULF) 0 0 0 0 0 1 0 1
HEMOGLOBIN LEGNANO 0 0 0 0 0 1 0 1
HEMOGLOBIN LILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN LISBON 0 0 0 0 0 1 0 1
HEMOGLOBIN LOIRE 0 0 0 0 0 1 0 1
HEMOGLOBIN LUTON 0 0 0 0 0 1 0 1
HEMOGLOBIN LUXEMBOURG 0 0 0 0 0 1 0 1
HEMOGLOBIN M (BOSTON) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (GOTHENBURG) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (IWATE) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (KANKAKEE) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (KISKUNHALAS) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (OLDENBURG) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (OSAKA) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (SENDAI) 0 0 0 0 0 1 0 1
HEMOGLOBIN MAHIDOL 0 0 0 0 0 1 0 1
HEMOGLOBIN MALHACEN 0 0 0 0 0 1 0 1
HEMOGLOBIN MANTES-LA-JOLIE 0 0 0 0 0 1 0 1
HEMOGLOBIN MATSUE-OKI 0 0 0 0 0 1 0 1
HEMOGLOBIN MELUSINE 0 0 0 0 0 1 0 1
HEMOGLOBIN MEMPHIS 0 0 0 0 0 1 0 1
HEMOGLOBIN MEXICO 0 0 0 0 0 1 0 1
HEMOGLOBIN MICHIGAN-I 0 0 0 0 0 1 0 1
HEMOGLOBIN MICHIGAN-II 0 0 0 0 0 1 0 1
HEMOGLOBIN MILLEDGEVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN MIYANO 0 0 0 0 0 1 0 1
HEMOGLOBIN MIZUSHI 0 0 0 0 0 1 0 1
HEMOGLOBIN MOABIT 0 0 0 0 0 1 0 1
HEMOGLOBIN MONTEFIORE 0 0 0 0 0 1 0 1
HEMOGLOBIN MOSELLA 0 0 0 0 0 1 0 1
HEMOGLOBIN MUGINO 0 0 0 0 0 1 0 1
HEMOGLOBIN MUNAKATA 0 0 0 0 0 1 0 1
HEMOGLOBIN NECKER ENFANTS-MALADES 0 0 0 0 0 1 0 1
HEMOGLOBIN NIGERIA 0 0 0 0 0 1 0 1
HEMOGLOBIN NISHIK 0 0 0 0 0 1 0 1
HEMOGLOBIN NOKO 0 0 0 0 0 1 0 1
HEMOGLOBIN NORFOLK 0 0 0 0 0 1 0 1
HEMOGLOBIN NOUAKCHOTT 0 0 0 0 0 1 0 1
HEMOGLOBIN NUNOBIKI 0 0 0 0 0 1 0 1
HEMOGLOBIN O (BUGINESE-X) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (INDONESIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (OLIVIERE) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (PADOVA) 0 0 0 0 0 1 0 1
HEMOGLOBIN OEGSTGEEST 0 0 0 0 0 1 0 1
HEMOGLOBIN OGI 0 0 0 0 0 1 0 1
HEMOGLOBIN OITA 0 0 0 0 0 1 0 1
HEMOGLOBIN OLEANDER 0 0 0 0 0 1 0 1
HEMOGLOBIN OLIVIERE 0 0 0 0 0 1 0 1
HEMOGLOBIN OTTAWA 0 0 0 0 0 1 0 1
HEMOGLOBIN OWARI 0 0 0 0 0 1 0 1
HEMOGLOBIN OZIERI 0 0 0 0 0 1 0 1
HEMOGLOBIN PAVIE 0 0 0 0 0 1 0 1
HEMOGLOBIN PERSPOLIS 0 0 0 0 0 1 0 1
HEMOGLOBIN PETAH TIKVA 0 0 0 0 0 1 0 1
HEMOGLOBIN POITIERS 0 0 0 0 0 1 0 1
HEMOGLOBIN PONTOISE 0 0 0 0 0 1 0 1
HEMOGLOBIN PORT HURON 0 0 0 0 0 1 0 1
HEMOGLOBIN PORT PHILLIP 0 0 0 0 0 1 0 1
HEMOGLOBIN Q 0 0 0 0 0 1 0 1
HEMOGLOBIN Q (INDIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN Q (IRAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN Q (THAILAND) 0 0 0 0 0 1 0 1
HEMOGLOBIN QUEENS 0 0 0 0 0 1 0 1
HEMOGLOBIN QUESTEMBERT 0 0 0 0 0 1 0 1
HEMOGLOBIN RAMONA 0 0 0 0 0 1 0 1
HEMOGLOBIN REIMS 0 0 0 0 0 1 0 1
HEMOGLOBIN RICCARTON 0 0 0 0 0 1 0 1
HEMOGLOBIN ROANNE 0 0 0 0 0 1 0 1
HEMOGLOBIN ROUBAIX 0 0 0 0 0 1 0 1
HEMOGLOBIN ROUEN 0 0 0 0 0 1 0 1
HEMOGLOBIN RUSS 0 0 0 0 0 1 0 1
HEMOGLOBIN SARATOGA SPRINGS 0 0 0 0 0 1 0 1
HEMOGLOBIN SASSARI 0 0 0 0 0 1 0 1
HEMOGLOBIN SAWARA 0 0 0 0 0 1 0 1
HEMOGLOBIN SERBIA 0 0 0 0 0 1 0 1
HEMOGLOBIN SETIF 0 0 0 0 0 1 0 1
HEMOGLOBIN SHAARE ZEDEK 0 0 0 0 0 1 0 1
HEMOGLOBIN SHENYANG 0 0 0 0 0 1 0 1
HEMOGLOBIN SHIMONOSEKI 0 0 0 0 0 1 0 1
HEMOGLOBIN SHUANGFENG 0 0 0 0 0 1 0 1
HEMOGLOBIN SIAM 0 0 0 0 0 1 0 1
HEMOGLOBIN SINGAPORE 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. CLAUDE 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. LUKE'S 0 0 0 0 0 1 0 1
HEMOGLOBIN STANLEYVILLE-II 0 0 0 0 0 1 0 1
HEMOGLOBIN STRUMICA 0 0 0 0 0 1 0 1
HEMOGLOBIN SUNSHINE SETH 0 0 0 0 0 1 0 1
HEMOGLOBIN SURESNES 0 0 0 0 0 1 0 1
HEMOGLOBIN SWAN RIVER 0 0 0 0 0 1 0 1
HEMOGLOBIN TAGAWA I 0 0 0 0 0 1 0 1
HEMOGLOBIN TAGAWA II 0 0 0 0 0 1 0 1
HEMOGLOBIN TAMANO 0 0 0 0 0 1 0 1
HEMOGLOBIN TATRAS 0 0 0 0 0 1 0 1
HEMOGLOBIN TAYBE 0 0 0 0 0 1 0 1
HEMOGLOBIN THAILAND 0 0 0 0 0 1 0 1
HEMOGLOBIN THIONVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN TITUSVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN TOKONAME 0 0 0 0 0 1 0 1
HEMOGLOBIN TOKYO 0 0 0 0 0 1 0 1
HEMOGLOBIN TONOSHO 0 0 0 0 0 1 0 1
HEMOGLOBIN TORINO 0 0 0 0 0 1 0 1
HEMOGLOBIN TOTTORI 0 0 0 0 0 1 0 1
HEMOGLOBIN TOYAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN TUNIS-BIZERTE 0 0 0 0 0 1 0 1
HEMOGLOBIN TURRIFF 0 0 0 0 0 1 0 1
HEMOGLOBIN TWIN PEAKS 0 0 0 0 0 1 0 1
HEMOGLOBIN UBE-2 0 0 0 0 0 1 0 1
HEMOGLOBIN UBE-4 0 0 0 0 0 1 0 1
HEMOGLOBIN UMI 0 0 0 0 0 1 0 1
HEMOGLOBIN UPPSALA 0 0 0 0 0 1 0 1
HEMOGLOBIN UTSUNOMIYA 0 0 0 0 0 1 0 1
HEMOGLOBIN VILLEURBANNE 0 0 0 0 0 1 0 1
HEMOGLOBIN WINNIPEG 0 0 0 0 0 1 0 1
HEMOGLOBIN WOODVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN WUMING 0 0 0 0 0 1 0 1
HEMOGLOBIN YUDA 0 0 0 0 0 1 0 1
HEMOGLOBIN YUKUHASHI-2 0 0 0 0 0 1 0 1
HEMOGLOBIN ZAMBIA 0 0 0 0 0 1 0 1
Heinz body anemia 1 0 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Methemoglobinemia, alpha type 1 0 0 0 0 0 0 1
Thalassemia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
OMIM 16 0 0 0 0 184 0 187
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 6 15 32 8 0 0 74
Quest Diagnostics Nichols Institute San Juan Capistrano 8 2 43 10 2 0 0 65
Natera, Inc. 2 2 10 1 5 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 4 1 0 0 0 9
PreventionGenetics, part of Exact Sciences 2 0 0 6 0 0 0 8
GeneDx 1 2 0 0 4 0 0 7
Fulgent Genetics, Fulgent Genetics 5 1 0 0 0 0 0 6
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 4 0 0 0 2 0 0 6
Invitae 2 0 0 1 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 2 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1 2
3billion 1 1 0 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Miller Lab NIH/NIDDK 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1

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