ClinVar Miner

Variants studied for congenital hypothyroidism

Included ClinVar conditions (34):
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
302 183 1000 136 136 2 1673

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A4 69 110 199 34 25 0 379
TG 25 6 213 26 22 1 288
DUOX2 11 16 175 15 17 0 227
TPO 22 5 91 6 17 1 142
PAX8 11 3 81 10 8 0 112
TSHR 18 4 66 8 9 0 103
SLC5A5 10 1 73 12 4 0 99
NKX2-1, SFTA3 11 6 24 6 10 0 55
SLC16A2 32 8 5 0 2 0 46
KAT6B 12 1 5 0 1 0 19
DUSP29, KAT6B 10 3 4 1 0 0 18
KCNJ10 0 0 14 1 0 0 15
DUOXA2 8 1 1 0 5 0 14
IYD 4 0 7 1 2 0 14
TSHB 7 1 3 2 1 0 13
FOXE1 2 0 4 2 4 0 12
IGSF1 9 0 0 0 3 0 12
SLA, TG 0 0 8 1 3 0 12
UBR1 6 1 3 1 0 0 11
CEP128, TSHR 1 0 5 1 1 0 8
THRA 6 1 1 0 0 0 8
FANCB 0 0 0 6 0 0 6
SECISBP2 4 1 1 0 0 0 6
TBL1X 4 1 5 0 0 0 6
PTRH2 4 1 0 0 0 0 5
IRS4 3 0 1 0 0 0 4
TRHR 4 2 0 0 0 0 4
AOPEP, FANCC 0 0 1 2 0 0 3
DMXL2 1 0 2 0 0 0 3
NKX2-1 0 0 1 1 2 0 3
NKX2-5 3 0 0 0 0 0 3
TUBB1 3 0 0 0 0 0 3
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 0 0 0 0 2
FOXI1 1 0 1 0 0 0 2
LINC01121 0 2 0 0 0 0 2
LOC108281110, PAX8 0 0 2 0 0 0 2
VPS13C 0 2 0 0 0 0 2
CLDN9 0 0 1 0 0 0 1
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
DIAPH1 0 1 0 0 0 0 1
MYO7A 0 0 1 0 0 0 1
NR1D1, THRA 0 0 1 0 0 0 1
OTOF 0 0 1 0 0 0 1
PSMD3 0 1 0 0 0 0 1
SLC26A7 0 1 0 0 0 0 1
TRU-TCA1-1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 10 7 836 90 100 0 1043
Counsyl 16 94 87 13 0 0 210
OMIM 161 0 1 0 0 0 162
Natera, Inc. 29 2 25 10 12 0 78
Baylor Genetics 25 5 21 0 0 0 51
Mendelics 4 2 10 6 8 0 30
Polak associated Lab,IMAGINE Institute 18 6 0 1 2 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 25 0 26
ClinGen Hearing Loss Variant Curation Expert Panel 5 7 4 3 5 0 24
Fulgent Genetics,Fulgent Genetics 11 3 8 1 0 0 23
Genetic Services Laboratory, University of Chicago 11 8 1 0 0 0 20
GeneReviews 15 0 0 0 2 0 17
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 9 0 0 0 0 14
Myriad Women's Health, Inc. 10 3 0 0 0 0 13
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 4 4 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 5 1 1 0 10
SIB Swiss Institute of Bioinformatics 1 4 5 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 4 0 0 0 0 9
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 0 9 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 6 0 8
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 3 1 0 0 0 8
Integrated Genetics/Laboratory Corporation of America 6 1 0 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 7 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 2 1 2 2 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 3 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 0 0 2
Department of Molecular Bıology and Genetics,Istanbul Technical University 0 2 0 0 0 0 2
Nilou-Genome Lab 0 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Institute of metabolic science 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 1
Department of Clinical Genetics and Genetic Counseling,Mediscan Systems 1 0 0 0 0 0 1

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