ClinVar Miner

Variants studied for blindness (disorder)

Included ClinVar conditions (48):
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
357 273 980 174 313 17 2006

Gene and significance breakdown #

Total genes and gene combinations: 51
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 102 71 160 35 38 3 360
CNGA3 56 69 92 9 10 1 217
GPR179 9 5 131 27 30 3 202
TRPM1 20 19 91 16 34 0 172
PDE6B 6 3 51 14 61 0 134
PDE6C 17 13 72 11 10 1 119
SLC24A1 7 1 81 10 14 0 113
CABP4 9 1 76 7 17 0 109
RHO 6 4 47 10 21 2 88
CACNA1F 24 21 9 3 6 0 63
LRIT3 5 0 43 7 8 1 63
GNAT1 5 1 32 3 21 0 59
NYX 9 9 20 8 6 0 52
GNAT2 13 4 25 4 4 1 47
ATF6 14 8 2 1 6 2 31
GRM6, ZNF454 6 3 3 3 8 1 23
GUCY2D 7 1 9 2 4 0 23
GRK1 4 20 0 1 0 0 22
PDE6H 1 1 11 1 5 1 17
GRM6 5 3 2 1 1 0 11
SAG 3 2 3 0 3 0 11
LOC126862088, TRPM1 1 2 5 1 1 0 9
OPN1LW 5 1 1 0 2 0 9
GNAT2, LOC129388577 2 0 5 0 0 0 7
OPN1MW 6 0 0 0 0 0 6
OPN1SW 3 0 0 0 1 1 5
CACNA1F, LOC126863257 1 2 1 0 0 0 4
ABCA4 1 1 0 0 0 0 2
BLOC1S1-RDH5, CD63, RDH5 1 1 0 0 0 0 2
CABP4, LOC130006201 0 0 2 0 0 0 2
CDCA3, GNB3 1 0 0 0 1 0 2
GNB3 2 0 0 0 0 0 2
USH2A 1 0 1 0 0 0 2
CABP4, GPR152 0 0 0 0 1 0 1
CABP4, LOC130006202 0 0 1 0 0 0 1
CEP290 1 0 0 0 0 0 1
CHM 0 1 0 0 0 0 1
CHN1 0 1 0 0 0 0 1
EFEMP1 0 1 0 0 0 0 1
GNAI3, GNAT2, MIR197 0 1 0 0 0 0 1
GRM6, LOC100130798, ZNF454 0 0 1 0 0 0 1
KIF1A 0 0 1 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
MIR211, TRPM1 1 0 0 0 0 0 1
OPA3 0 1 0 0 0 0 1
OPN1MW2 0 0 1 0 0 0 1
RBP3 0 1 0 0 0 0 1
RLBP1 0 0 1 0 0 0 1
RPGR 0 1 0 0 0 0 1
RUNX2 1 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 3 787 127 255 0 1175
Molecular Genetics Laboratory, Institute for Ophthalmic Research 136 55 35 1 5 0 230
Natera, Inc. 14 3 79 24 23 0 143
OMIM 110 0 0 0 0 0 110
Genome-Nilou Lab 2 0 9 4 58 0 73
Fulgent Genetics, Fulgent Genetics 17 7 28 12 3 0 67
Sharon lab, Hadassah-Hebrew University Medical Center 32 16 0 0 0 0 48
Counsyl 2 33 7 0 0 0 42
NIHR Bioresource Rare Diseases, University of Cambridge 6 27 0 0 0 0 33
Revvity Omics, Revvity 11 10 5 0 0 0 26
3billion 15 6 5 0 0 0 26
Laboratory of Genetics in Ophthalmology, Institut Imagine 15 10 0 0 0 0 25
Mendelics 10 2 1 4 7 0 24
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 4 9 0 0 0 23
Molecular Medicine, University of Leeds 0 19 0 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 7 3 0 0 0 18
Myriad Genetics, Inc. 0 14 2 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 11 4 0 15
DBGen Ocular Genomics 5 6 3 0 0 0 14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 4 4 0 0 0 12
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 5 1 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 5 1 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 3 0 0 0 0 10
Genomics England Pilot Project, Genomics England 6 4 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 2 0 0 0 0 9
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 4 2 3 0 0 0 9
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 7 2 0 0 0 9
MGZ Medical Genetics Center 2 4 2 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 3 2 0 0 0 8
Baylor Genetics 4 1 2 0 0 0 7
GeneReviews 1 0 0 0 0 6 7
Genetics and Molecular Pathology, SA Pathology 1 1 5 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 4 1 2 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 5 1 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 1 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 2 0 0 0 5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 1 2 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 1 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Medical Molecular Genetics Department, National Research Center 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.