ClinVar Miner

Variants studied for dental enamel hypoplasia

Included ClinVar conditions (28):
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
152 58 320 42 93 6 659

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WDR72 9 10 111 16 12 0 158
ENAM 9 3 79 5 15 0 109
DLX3 3 3 35 6 26 0 71
MMP20 10 5 49 1 6 0 69
LAMB3 15 5 8 0 23 0 51
FAM83H 22 0 2 1 3 3 31
FAM20A, PRKAR1A 9 6 8 5 2 0 30
FAM20A 7 2 6 7 1 0 23
COL17A1 12 7 2 0 0 0 21
AMELX, ARHGAP6 13 2 0 0 0 3 18
ACP4 7 3 5 0 0 0 13
AMBN 4 3 4 1 0 0 10
ITGB6 5 3 1 0 2 0 10
KLK4 5 3 1 0 0 0 8
RELT 5 2 0 0 0 0 7
SLC24A4 5 0 1 0 0 0 6
GPR68 4 0 1 0 0 0 5
ODAPH 5 0 0 0 0 0 5
COL7A1 0 0 3 0 0 0 3
SP6 2 0 0 0 0 0 2
ACP4, LOC130065006 0 0 1 0 0 0 1
AMTN 1 0 0 0 0 0 1
BNC2 0 0 0 0 1 0 1
CHCHD2 0 0 0 0 1 0 1
CTSK 0 0 1 0 0 0 1
LAMB3, LOC126805999 0 0 1 0 0 0 1
LAMC2 0 0 1 0 0 0 1
LTBP3 0 1 0 0 0 0 1
PSPH 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 267 26 50 0 345
OMIM 79 0 0 0 0 0 79
Fulgent Genetics, Fulgent Genetics 16 4 21 15 1 0 57
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 4 18 23 0 0 0 45
Genome-Nilou Lab 0 0 0 0 41 0 41
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 27 10 2 0 0 0 39
Dental Genetics Laboratory, Seoul National University School of Dentistry 16 0 4 0 0 0 20
Wang Lab, School of Dentistry, National Taiwan University 8 0 0 0 0 0 8
Institute of Human Genetics, University of Ulm 3 0 0 0 3 0 6
Medical Biology Lab, Gaziantep University 0 0 0 0 0 6 6
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 3 3 0 0 0 0 6
Baylor Genetics 1 1 3 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 1 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Revvity Omics, Revvity 1 1 1 0 0 0 3
Mendelics 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 3
Lifecell International Pvt. Ltd 0 3 0 0 0 0 3
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 0 1
The Fourth Military Medical University, School of Stomatology 1 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 0 1
Medical Molecular Genetics, National Research Centre 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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