ClinVar Miner

Variants studied for achromatopsia

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 not provided total
174 81 269 36 49 1 578

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 94 48 89 11 22 0 245
CNGA3 32 15 76 8 7 1 130
PDE6C 11 8 67 11 10 0 104
GNAT2 15 4 25 4 3 0 50
ATF6 13 6 1 1 2 0 23
PDE6H 2 0 9 1 5 0 17
OPN1LW 3 0 0 0 0 0 3
CABP4 1 0 1 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
CACNA2D4 0 0 1 0 0 0 1
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 235 33 46 0 318
Institute for Ophthalmic Research,University Tuebingen 111 18 15 0 0 0 143
Counsyl 2 33 8 0 0 0 43
OMIM 33 0 0 0 0 0 33
Sharon lab,Hadassah-Hebrew University Medical Center 19 10 0 0 0 0 29
Molecular Genetics Laboratory,Institute for Ophthalmic Research 17 1 7 0 0 0 25
Mendelics 4 1 1 1 5 0 12
GeneReviews 7 0 0 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 2 1 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 2 0 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 3 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 2 1 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 1 0 4
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 2 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 0 0 0 0 0 2
Ocular Genomics Institute,Massachusetts Eye and Ear 1 1 0 0 0 0 2
Baylor Genetics 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 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

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.