ClinVar Miner

Variants studied for monogenic diabetes

Included ClinVar conditions (61):
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 likely risk allele uncertain risk allele not provided total
794 952 2886 785 774 125 146 80 5382

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
GCK 270 357 236 77 90 49 53 6 853
ABCC8 60 95 635 66 68 0 22 13 833
HNF1A 148 198 293 100 85 31 25 3 683
HNF4A 63 89 242 80 138 14 22 2 476
HNF1B 154 101 143 78 44 19 17 0 462
GLIS3 5 9 350 57 53 0 2 0 453
KCNJ11 22 35 213 27 38 2 0 26 269
CEL 4 7 112 17 7 0 0 0 139
NEUROD1 2 0 98 13 10 0 0 0 119
KLF11 2 0 72 21 27 0 0 0 115
BLK 4 0 52 26 32 0 0 0 107
PDX1 2 10 64 34 8 0 0 1 104
PAX4 2 0 44 28 12 0 0 0 77
INS, INS-IGF2 13 20 36 6 3 8 2 24 72
ALMS1 0 0 4 35 26 0 0 0 65
C12orf43, HNF1A 4 8 40 7 28 0 1 1 65
HNF1B, LOC126862549 15 15 19 11 6 2 2 0 61
WFS1 0 0 30 7 14 0 0 0 51
PTF1A 5 1 28 7 4 0 0 0 42
ZFP57 8 2 18 12 9 0 0 0 42
ABCC8, LOC110121471 2 0 21 7 4 0 0 0 28
PPP1R3A 0 0 11 5 9 0 0 0 25
BLK, LOC126860302 0 0 13 4 3 0 0 0 20
AGPAT2 0 0 10 1 2 0 0 0 13
LEPR 0 0 10 2 0 0 0 0 12
RFX6 0 0 4 7 1 0 0 0 12
INSR 0 0 5 4 2 0 0 0 11
APPL1 2 0 2 3 4 0 0 0 10
PLIN1 0 0 2 3 5 0 0 0 10
BLK, LOC126860303 0 0 2 3 5 0 0 0 9
BSCL2, HNRNPUL2-BSCL2 1 0 6 1 1 0 0 0 9
EIF2AK3 0 0 5 1 3 0 0 0 9
HADH 0 0 7 0 2 0 0 0 9
KLF11, LOC128897170 0 0 8 0 1 0 0 0 9
MC4R 1 0 5 1 2 0 0 0 9
GATA6 0 0 4 2 2 0 0 0 8
ABCC8, KCNJ11 0 0 5 7 7 0 0 1 7
INS, INS-IGF2, TH 0 0 1 5 5 0 0 0 7
LMNA 1 1 2 2 1 0 0 0 7
SIM1 0 0 6 1 0 0 0 0 7
CAVIN1 0 0 5 1 0 0 0 0 6
SLC2A2 0 0 3 0 3 0 0 0 6
ALMS1, LOC126806252 0 0 2 3 0 0 0 0 5
INS 2 1 3 1 0 0 0 3 5
INS, TH 0 0 0 4 0 0 0 0 4
LOC127407129, RFX6 0 1 1 1 1 0 0 0 4
SLC19A2 0 0 2 1 1 0 0 0 4
​intergenic 0 2 1 0 0 0 0 0 3
FOXP3 0 0 2 0 1 0 0 0 3
PPARG 0 0 3 0 0 0 0 0 3
CAV1 0 0 2 0 0 0 0 0 2
LOC125146351, PLIN1 0 0 0 1 1 0 0 0 2
APPL1, ASB14 0 0 0 1 0 0 0 0 1
BLK, FAM167A 1 0 0 0 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 0 1 0 0 0 1
CARS2 0 0 1 0 0 0 0 0 1
EDEM2, MMP24-AS1-EDEM2 0 0 1 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 1
GLUD1 0 0 1 0 0 0 0 0 1
GLUD1, LOC130004254 0 0 0 0 1 0 0 0 1
GLUD1, LOC130004255, SHLD2 0 0 0 1 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 1
LEP 0 0 0 0 1 0 0 0 1
LEPR, LOC122094844 0 0 0 0 1 0 0 0 1
LOC126859771, RFX6 0 0 0 1 0 0 0 0 1
LOC129931894, SLC19A2 0 0 1 0 0 0 0 0 1
MLKL 1 0 0 0 0 0 0 0 1
PARK7 0 0 0 1 0 0 0 0 1
PAX2 0 0 1 0 0 0 0 0 1
PRKAG2 0 0 0 0 1 0 0 0 1
SCNN1B 0 0 1 0 0 0 0 0 1
UCP2 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 56 114 729 130 343 125 146 0 1627
Fulgent Genetics, Fulgent Genetics 87 138 959 181 14 0 0 0 1377
Illumina Laboratory Services, Illumina 1 0 677 225 322 0 0 0 1147
ClinGen Monogenic Diabetes Variant Curation Expert Panel 286 282 297 27 23 0 0 0 915
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 1 0 214 95 120 0 0 0 430
Ambry Genetics 72 52 90 173 33 0 0 0 420
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 93 162 28 29 6 0 0 9 326
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 135 57 21 4 0 0 0 0 217
OMIM 110 0 1 0 0 0 0 0 111
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 14 74 1 5 0 0 0 107
Geisinger Clinic, Geisinger Health System 73 24 0 0 0 0 0 0 97
New York Genome Center 1 2 64 0 0 0 0 0 67
GeneReviews 2 0 0 0 0 0 0 64 66
Natera, Inc. 0 4 24 9 8 0 0 0 45
Molecular Genetics, Madras Diabetes Research Foundation 6 30 8 1 0 0 0 0 45
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital 3 26 7 0 0 0 0 0 36
Genetic Services Laboratory, University of Chicago 19 16 0 0 0 0 0 0 35
Counsyl 0 10 25 0 0 0 0 0 35
MVZ Medizinische Genetik Mainz 5 13 16 0 0 0 0 0 34
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 18 0 0 0 0 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 9 20 0 0 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 6 6 0 0 0 0 0 33
Baylor Genetics 7 5 17 0 0 0 0 0 29
Translational Genomics Laboratory, University of Maryland School of Medicine 15 13 0 0 0 0 0 0 28
Mendelics 7 2 6 3 9 0 0 0 27
Genome-Nilou Lab 0 0 1 0 24 0 0 0 25
Pars Genome Lab 0 0 1 4 18 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 3 14 0 0 0 0 0 22
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 13 6 2 1 0 0 0 0 22
3billion, Medical Genetics 4 6 12 0 0 0 0 0 22
Genetics and Molecular Pathology, SA Pathology 4 12 5 0 0 0 0 0 21
National Newborn Screening Laboratory, Hospital Nacional de Niños 3 17 0 0 0 0 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 10 3 7 0 0 0 0 0 20
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 19 19
MGZ Medical Genetics Center 3 8 7 0 0 0 0 0 18
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 4 3 9 0 2 0 0 0 18
Molecular Genetics, Royal Melbourne Hospital 5 4 6 1 2 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 5 4 5 0 0 0 0 0 14
Molecular Biology Laboratory, Fundació Puigvert 8 6 0 0 0 0 0 0 14
Revvity Omics, Revvity 1 2 9 0 0 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 3 0 9 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 5 0 0 0 0 0 11
Clinical Genomics Laboratory, Washington University in St. Louis 2 2 5 0 0 0 0 0 9
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 1 2 5 1 0 0 0 0 9
MVZ Dr. Eberhard & Partner Dortmund 0 1 7 0 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 6 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 4 0 0 0 0 0 7
Exeter Molecular Genetics Laboratory 4 2 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 5 0 0 0 0 0 0 6
Department of Clinical Genetics, Medical University of Lodz 3 3 0 0 0 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 3 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 3 2 0 0 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 0 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 0 0 4
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 2 1 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 1 0 0 0 3
Kangwon National University Hospital 1 2 0 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 1 2 0 0 0 0 0 0 3
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd. 0 1 2 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 0 0 3
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 2 0 1 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 0 3 0 0 0 0 0 0 3
Institute of Monogenic Disease, School of Medicine, Huanghuai University 0 3 0 0 0 0 0 0 3
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 3 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
deCODE genetics, Amgen 1 1 0 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 2
Stone Lab, Washington University School of Medicine 2 0 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 1 1 0 0 0 0 0 0 2
Diabetes Institute, Department of Endocrinology and Metabolism, First Affiliated Hospital of Zhengzhou University 2 0 0 0 0 0 0 0 2
Smedley Team, Phenogenomics Group, Queen Mary University of London 0 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Center for Medical Genomics, Jagiellonian University Medical College 1 0 0 0 0 0 0 0 1
Sidra Medicine 1 0 0 0 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 1
Medical Genomics Research Department, King Abdullah International Medical Research Center 0 0 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 0 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 0 0 1

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