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
145 62 158 33 10 1 387

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNGB3 84 43 53 17 4 0 185
PDE6C 8 7 46 7 5 0 72
CNGA3 20 5 40 6 0 1 70
GNAT2 14 5 19 3 1 0 39
ATF6 11 2 0 0 0 0 13
OPN1LW 3 0 0 0 0 0 3
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: 22
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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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 7 1 7 0 0 0 15
GeneReviews 7 0 0 0 0 0 7
NIHR Bioresource Rare Diseases,University of Cambridge 1 5 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 0 4
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 0 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
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

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