ClinVar Miner

Variants studied for congenital hypothyroidism

Included ClinVar conditions (31):
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
223 139 602 169 50 2 1153

Gene and significance breakdown #

Total genes and gene combinations: 38
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A4 47 103 125 18 3 0 279
TG 19 0 99 22 1 1 140
IYD 4 0 76 40 9 0 129
DUOX2 9 9 80 16 4 0 115
TPO 20 1 45 17 8 1 86
TSHR 17 3 23 23 0 0 64
KCNJ10 0 0 56 2 2 0 60
PAX8 7 1 41 6 1 0 56
NKX2-1, SFTA3 8 4 17 8 2 0 39
SLC16A2 25 5 2 0 2 0 33
FOXI1 1 0 23 4 2 0 30
DUPD1, KAT6B 9 2 3 0 0 0 14
IGSF1 7 0 0 0 3 0 10
SLC5A5 8 0 0 0 1 0 9
TSHB 6 1 2 0 1 0 9
DUOXA2 3 0 0 0 5 0 8
FOXE1 2 0 0 2 4 0 8
KAT6B 4 1 2 0 0 0 7
FANCB 0 0 0 6 0 0 6
THRA 6 0 0 0 0 0 6
UBR1 6 0 0 0 0 0 6
CEP128, TSHR 1 0 2 2 0 0 5
SECISBP2 4 0 0 0 0 0 4
SLA, TG 0 0 1 2 1 0 4
KCNJ10, KCNJ9 0 0 3 0 0 0 3
NKX2-1 0 0 1 1 1 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
LINC01121 0 2 0 0 0 0 2
PTRH2 2 0 0 0 0 0 2
VPS13C 0 2 0 0 0 0 2
COPB1, CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
CYP2R1, PDE3B, PSMA1 0 1 0 0 0 0 1
DMXL2 1 0 0 0 0 0 1
NR1D1, THRA 0 0 1 0 0 0 1
PSMD3 0 1 0 0 0 0 1
TRU-TCA1-1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 10 7 496 147 25 0 685
Counsyl 21 99 86 13 0 0 219
OMIM 147 0 1 0 0 0 148
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 0 25 0 26
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 12 0 0 0 2 0 14
ClinGen Hearing Loss Variant Curation Expert Panel, 4 2 2 0 3 0 11
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 4 4 0 0 0 10
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 0 9 0 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 1 6 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 2 0 0 0 0 7
Hereditary Research Laboratory,Bethlehem University 7 0 0 0 0 0 7
Leiden Open Variation Database 0 0 0 6 0 0 6
Baylor Genetics 4 1 0 0 0 0 5
Johns Hopkins Genomics,Johns Hopkins University 1 1 2 1 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 1 0 0 0 3
Polak associated Lab,IMAGINE Institute 3 0 0 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 Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 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
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.