ClinVar Miner

Variants studied for achromatopsia

Included ClinVar conditions (11):
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
168 79 161 34 12 1 426

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 92 48 53 17 4 0 197
CNGA3 29 15 41 6 0 1 84
PDE6C 11 8 46 7 5 0 76
GNAT2 15 5 19 3 1 0 40
ATF6 12 3 1 1 2 0 19
OPN1LW 3 0 0 0 0 0 3
CABP4 1 0 1 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
PDE6H 2 0 0 0 0 0 2
OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 127 30 9 0 170
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 9 1 7 0 0 0 17
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
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 1 0 0 0 0 5
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
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 0 1 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
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

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