ClinVar Miner

Variants studied for ocular albinism

Included ClinVar conditions (13):
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 other not provided total
110 114 32 7 4 1 4 221

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
TYR 90 101 27 6 3 1 4 184
GPR143 19 10 3 1 1 0 0 31
AP3D1 0 0 1 0 0 0 0 1
LURAP1L, TYRP1 0 1 0 0 0 0 0 1
NOX4, TYR 0 1 0 0 0 0 0 1
NR2E3 1 0 0 0 0 0 0 1
TYRP1 0 1 0 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 36 57 15 2 0 0 0 108
Genome-Nilou Lab 44 20 6 3 2 0 0 75
OMIM 44 0 0 0 1 0 0 45
Genetic Services Laboratory, University of Chicago 28 9 0 0 0 0 0 37
Juno Genomics, Hangzhou Juno Genomics, Inc 14 2 1 0 0 0 0 17
MGZ Medical Genetics Center 7 5 1 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 5 2 0 0 0 0 10
3billion, Medical Genetics 6 3 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 4 1 4 0 0 0 0 8
Baylor Genetics 4 1 2 0 0 0 0 6
Mendelics 3 0 0 2 1 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 0 6
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 6 0 0 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 0 0 0 5
Center of Medical Genetics, Central South University 2 3 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 0 0 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 2 4
Hadassah Hebrew University Medical Center 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 3
Molecular Genetics, University Hospital Bordeaux 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 0 2
Science and Research Branch, Islamic Azad University, Islamic Azad University 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 1 0 0 0 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Institute of Biotechnology and Microbiology, Bacha Khan University, Charsadda 1 0 0 0 0 0 0 1

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