ClinVar Miner

Variants studied for blindness (disorder)

Included ClinVar conditions (37):
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
235 101 211 57 18 3 599

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 86 45 53 17 4 0 189
PDE6C 8 7 46 7 5 0 72
CNGA3 20 6 40 6 0 1 71
GNAT2 14 5 19 3 1 0 39
TRPM1 10 12 10 0 0 0 31
SAG 5 1 12 8 2 0 28
GPR179 8 3 8 6 2 0 26
NYX 6 1 8 6 3 0 24
CACNA1F 8 9 2 0 0 0 19
ATF6 11 2 0 0 0 0 13
GRM6, LOC100130798 5 0 2 2 1 1 11
CABP4 5 0 1 1 0 0 7
GRK1 4 1 1 1 0 0 7
LRIT3 4 0 2 0 0 1 7
SLC24A1 5 0 2 0 0 0 7
GRM6 4 2 1 0 0 0 6
RHO 6 0 0 0 0 0 6
GNAT1 4 0 2 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
PDE6B 1 1 0 0 0 0 2
PDE6H 2 0 0 0 0 0 2
USH2A 1 0 1 0 0 0 2
CDCA3, GNB3 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
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 165 44 14 0 227
Institute for Ophthalmic Research,University Tuebingen 111 18 15 0 0 0 143
OMIM 109 0 0 0 0 0 109
Counsyl 2 33 8 0 0 0 43
NIHR Bioresource Rare Diseases, University of Cambridge 6 27 0 0 0 0 33
Molecular Genetics Laboratory,Institute for Ophthalmic Research 10 1 7 0 0 0 18
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 3 0 0 0 0 8
GeneReviews 8 0 0 0 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 1 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Human Genetics - Radboudumc,Radboudumc 3 0 1 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 1 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 1 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
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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