ClinVar Miner

Variants studied for tooth agenesis

Included ClinVar conditions (20):
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 pathogenic, low penetrance pathogenic, low penetrance not provided total
180 56 192 308 33 1 1 3 721

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance pathogenic, low penetrance not provided total
WNT10A 85 24 89 282 14 1 1 2 456
PAX9 39 10 64 19 15 0 0 0 140
LRP6 16 8 3 0 2 0 0 0 28
EDA 13 7 2 0 1 0 0 1 22
MSX1 6 1 4 0 0 0 0 0 11
LOC129935618, WNT10A 0 0 7 2 0 0 0 0 9
TSPEAR 8 0 1 0 0 0 0 0 8
LOC129935619, WNT10A 0 0 6 1 0 0 0 0 7
LOC129935625, WNT10A 0 0 2 3 0 0 0 0 5
GREM2 2 0 2 0 0 0 0 0 4
LOC129992137, MSX1 3 0 0 1 0 0 0 0 4
WNT10B 2 0 1 0 1 0 0 0 4
LOC126653398, TSPEAR 2 0 1 0 0 0 0 0 3
BMPR2 0 2 0 0 0 0 0 0 2
KDF1 0 1 1 0 0 0 0 0 2
LOC108281111, PAX9 0 0 2 0 0 0 0 0 2
AAK1 0 0 1 0 0 0 0 0 1
ANKRD30B 0 0 1 0 0 0 0 0 1
BMP4 0 0 1 0 0 0 0 0 1
EDA2R 0 1 0 0 0 0 0 0 1
EDAR, RANBP2 1 0 0 0 0 0 0 0 1
EDARADD 0 1 0 0 0 0 0 0 1
EVC2 0 0 1 0 0 0 0 0 1
ITPA 1 0 0 0 0 0 0 0 1
LOC108281111, PAX9, SLC25A21 1 0 0 0 0 0 0 0 1
LOC129935620, LOC129935621, LOC129935622, LOC129935623, LOC129935624, LOC129935625, WNT10A 1 0 0 0 0 0 0 0 1
PAX9, SLC25A21 0 0 1 0 0 0 0 0 1
RANBP3-DT, RFX2 0 1 0 0 0 0 0 0 1
SEH1L 0 0 1 0 0 0 0 0 1
VPS54 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 92 9 76 285 20 0 1 0 483
Illumina Laboratory Services, Illumina 1 0 90 24 13 0 0 0 128
OMIM 49 0 0 0 0 0 0 0 49
Fulgent Genetics, Fulgent Genetics 6 6 6 3 3 0 0 0 24
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine 3 9 4 0 0 1 0 0 17
Department of Prosthodontics, Peking University School and Hospital of Stomatology 7 4 4 0 0 0 0 0 15
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 3 6 1 0 0 0 0 0 10
Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University and Hebei Key Laboratory of Stomatology 7 0 0 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 5 0 0 0 0 0 0 6
Stomatology Center, Xiangya Hospital, Central South University 5 0 1 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 2 0 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 2 0 2 0 0 0 0 0 4
Dental Genetics Laboratory, Seoul National University School of Dentistry 4 0 0 0 0 0 0 0 4
Department of Molecular Biology and Genetics, Istanbul Technical University 0 0 4 0 0 0 0 0 4
Genome-Nilou Lab 0 0 2 0 2 0 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 0 0 3
Centre for Genetic Disorders, Banaras Hindu University 2 0 0 0 0 0 0 1 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Ulm 1 1 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 1
Maesawa Lab, Iwate Medical University 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Research Center of Stomatology, College of Stomatology, Xi'an Jiaotong University 0 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1

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