ClinVar Miner

Variants studied for blindness (disorder)

Included ClinVar conditions (39):
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
305 160 903 158 285 3 1746

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 97 50 116 22 33 0 283
GPR179 8 3 123 27 30 0 187
TRPM1 19 15 95 16 34 0 174
CNGA3 35 23 76 8 7 1 138
PDE6B 2 1 50 12 61 0 126
CABP4 6 0 78 7 17 0 107
PDE6C 12 8 67 11 10 0 105
SLC24A1 6 0 67 8 12 0 93
RHO 6 1 45 11 21 0 84
LRIT3 4 0 43 7 6 1 60
SAG 8 1 29 6 13 0 57
GNAT1 4 0 31 2 21 0 56
GNAT2 15 4 25 4 3 0 50
NYX 9 5 17 8 6 0 45
CACNA1F 20 16 6 2 0 0 44
ATF6 13 6 2 1 2 0 24
GRK1 4 19 1 1 0 0 23
DENND4A, SLC24A1 0 0 14 2 2 0 18
PDE6H 2 0 11 1 5 0 18
GRM6, LOC100130798 5 0 3 2 1 1 12
GRM6 4 2 1 0 0 0 6
GUCY2D 5 0 0 0 0 0 5
OPN1MW 5 0 0 0 0 0 5
OPN1LW 4 0 0 0 0 0 4
OPN1SW 3 0 0 0 0 0 3
ABCA4 1 1 0 0 0 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
CDCA3, GNB3 1 0 0 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
KIF1A 0 0 1 0 0 0 1
MIR211, TRPM1 1 0 0 0 0 0 1
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
OPN1MW2 0 0 1 0 0 0 1
RBP3 0 1 0 0 0 0 1
RPGR 0 1 0 0 0 0 1
WFS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 817 134 269 0 1225
Molecular Genetics Laboratory,Institute for Ophthalmic Research 130 19 22 0 0 0 169
OMIM 114 0 0 0 0 0 114
Natera, Inc. 5 1 34 11 16 0 67
Sharon lab,Hadassah-Hebrew University Medical Center 32 16 0 0 0 0 48
Counsyl 2 33 8 0 0 0 43
NIHR Bioresource Rare Diseases, University of Cambridge 6 27 0 0 0 0 33
Laboratory of Genetics in Ophthalmology,Institut Imagine 15 10 0 0 0 0 25
Centre for Mendelian Genomics,University Medical Centre Ljubljana 9 5 9 0 0 0 23
Mendelics 6 1 2 4 6 0 19
Molecular Medicine,University of Leeds 0 19 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 13 4 0 18
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 4 4 4 0 0 0 12
Baylor Genetics 8 1 2 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 5 1 0 0 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 4 0 0 0 0 9
GeneReviews 8 0 0 0 0 0 8
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 4 2 1 0 0 0 7
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 4
Human Genetics - Radboudumc,Radboudumc 3 0 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 3
CHLA 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
Centogene AG - the Rare Disease Company 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 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, Oman 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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