ClinVar Miner

Variants studied for hypothyroidism

Included ClinVar conditions (41):
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
368 481 1129 159 154 13 2103

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A4 116 176 222 46 26 9 484
TG 41 57 239 26 27 1 375
DUOX2 48 88 208 18 17 0 352
TPO 32 34 85 7 19 1 172
TSHR 23 26 65 8 14 1 129
SLC5A5 11 19 73 12 7 0 117
PAX8 10 7 79 9 10 0 114
NKX2-5 3 2 31 4 1 0 41
KCNJ10 2 2 30 6 0 0 40
IGSF1 13 4 10 2 7 0 35
DUOXA2 12 17 1 0 5 0 32
LOC123956210, SLC26A4 8 11 11 5 4 1 31
IYD 5 9 7 1 3 0 21
TSHB 6 6 3 2 1 0 15
SLA, TG 0 0 9 1 3 0 13
THRA 5 5 3 0 0 0 13
LOC126806104, TPO 0 5 8 0 0 0 12
SECISBP2 8 1 3 0 0 0 12
TBL1X 4 2 6 0 4 0 12
FOXI1 1 0 7 2 0 0 10
LOC126806316, PAX8 1 0 8 1 0 0 10
CEP128, TSHR 1 0 6 1 1 0 9
FANCB 0 0 0 6 0 0 6
IRS4 3 0 1 0 2 0 6
TRHR 4 3 0 0 0 0 5
TRH 0 0 1 0 3 0 4
AOPEP, FANCC 0 0 1 2 0 0 3
DUOXA1, DUOXA2 1 2 0 0 0 0 3
NR1D1, THRA 1 0 2 0 0 0 3
TUBB1 3 0 0 0 0 0 3
LOC108281110, PAX8 0 0 2 0 0 0 2
ADNP 0 1 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 0 0 1
CCDC186 1 0 0 0 0 0 1
CHD7 1 0 0 0 0 0 1
CLDN9 0 0 1 0 0 0 1
CR1 0 0 1 0 0 0 1
DIAPH1 0 1 0 0 0 0 1
GNB1 1 0 0 0 0 0 1
HUWE1 0 0 1 0 0 0 1
MYO7A 0 0 1 0 0 0 1
OTOF 0 0 1 0 0 0 1
POGZ 0 1 0 0 0 0 1
RET 1 0 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 1
SLC26A7 0 1 0 0 0 0 1
SLC33A1 0 1 0 0 0 0 1
STAT1 1 0 0 0 0 0 1
TRU-TCA1-1 1 0 0 0 0 0 1
TTF1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 11 11 813 86 89 0 1010
Fulgent Genetics, Fulgent Genetics 124 246 113 23 5 0 511
Counsyl 15 93 79 13 0 0 200
Genome-Nilou Lab 41 36 44 17 45 0 183
Natera, Inc. 54 8 50 19 19 0 150
OMIM 125 0 1 0 0 0 126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 65 37 0 0 0 0 102
Revvity Omics, Revvity 12 10 49 0 0 0 71
Juno Genomics, Hangzhou Juno Genomics, Inc 36 12 2 0 0 0 50
Myriad Genetics, Inc. 12 24 10 0 0 0 46
Baylor Genetics 16 6 21 0 0 0 43
Polak associated Lab, IMAGINE Institute 18 6 0 1 2 0 27
ClinGen Hearing Loss Variant Curation Expert Panel 7 7 4 3 5 0 26
Genetics and Molecular Pathology, SA Pathology 8 8 8 1 0 0 25
3billion, Medical Genetics 10 8 7 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 23 0 24
Mendelics 3 2 5 5 8 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 2 0 0 0 0 19
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 9 0 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 5 5 4 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 7 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 9 3 0 0 0 0 12
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 5 3 4 0 0 0 12
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 4 4 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 4 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 5 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 1 3 5 0 0 0 9
Leiden Open Variation Database 0 0 1 8 0 0 9
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 8 0 0 0 1 0 9
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 3 3 3 0 0 0 9
GeneReviews 0 0 0 0 0 8 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 3 1 1 0 7
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 1 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 4 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 1 3 0 0 0 0 4
MGZ Medical Genetics Center 2 0 2 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 1 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 1 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 1 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 2 0 1 0 0 0 3
NxGen MDx 0 2 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 1 1 0 0 0 0 2
Department of Molecular Biology and Genetics, Acibadem University 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of metabolic science 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 1
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 0 1 0 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 1
Weiss Lab, University of Miami 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Department of Clinical Genetics and Genetic Counseling, Mediscan Systems 1 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 1 0 0 0 0 0 1
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 1 1

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