ClinVar Miner

Variants studied for oculocutaneous albinism

Included ClinVar conditions (23):
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 association not provided total
208 205 274 49 49 2 9 683

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
OCA2 64 90 101 18 23 0 2 248
TYR 91 79 42 7 5 0 4 178
SLC45A2 25 17 48 2 3 0 3 92
LURAP1L, TYRP1 5 6 37 6 9 0 0 59
TYRP1 3 4 30 1 4 0 0 41
MC1R 0 6 11 5 1 0 0 21
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 8 1 0 0 9
MYEF2, SLC24A5 7 1 0 0 0 1 0 9
DCT 7 0 1 0 0 0 0 8
LRMDA 1 1 0 0 3 0 0 5
LOC110121427, LRMDA 1 0 0 1 0 0 0 2
LOC132090298, LOC132090299, OCA2 2 0 0 0 0 0 0 2
SLC24A5 0 1 0 0 0 1 0 2
WDR45 0 0 1 1 0 0 0 2
ATP5ME, PDE6B 1 0 0 0 0 0 0 1
HPS4 0 0 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 0 0 1
LOC132090299, OCA2 1 0 0 0 0 0 0 1
MITF 0 0 1 0 0 0 0 1
ZDHHC15 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Illumina Laboratory Services, Illumina 10 5 201 22 37 0 0 275
Genome-Nilou Lab 51 33 27 16 17 0 0 144
Fulgent Genetics, Fulgent Genetics 22 14 38 10 5 0 0 89
OMIM 71 0 0 0 1 2 0 74
Genetic Services Laboratory, University of Chicago 46 18 0 0 0 0 0 64
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 39 18 0 0 0 0 0 57
Juno Genomics, Hangzhou Juno Genomics, Inc 21 8 4 0 0 0 0 33
University of Washington Center for Mendelian Genomics, University of Washington 0 32 0 0 0 0 0 32
3billion 9 10 10 0 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 6 2 0 0 0 0 24
MGZ Medical Genetics Center 10 9 3 0 0 0 0 22
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 21 1 0 0 0 0 22
Center of Medical Genetics, Central South University 6 11 1 0 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 6 4 8 0 0 0 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 6 0 0 0 0 0 14
Mendelics 5 0 0 1 4 0 0 10
Baylor Genetics 5 1 3 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 3 0 0 0 0 8
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 8 0 0 0 0 0 0 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 3 1 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 5 0 0 0 0 0 7
Science and Research Branch, Islamic Azad University, Islamic Azad University 3 4 0 0 0 0 0 7
Centre for Human Genetics, University of Kinshasa 7 0 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 1 1 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 2 0 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 5 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 1 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 0 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 2 3 0 0 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 2 0 0 0 0 0 5
Molecular Genetics, University Hospital Bordeaux 3 2 0 0 0 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 0 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 2 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 0 2
Rare Disease Group, University of Exeter 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Genetics - Synnovis, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 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
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 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
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Genetic Disease Research Branch / Genetics Development and Disease Section, National Human Genome Research Institute 1 0 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 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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