ClinVar Miner

Variants studied for Achromatopsia

Coded as:
Minimum submission review status: Collection method:
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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 total
64 29 157 36 33 313

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 total
CNGB3 26 6 84 26 24 163
PDE6C 8 8 67 9 9 101
CNGA3 24 12 5 1 0 39
ATF6 1 2 0 0 0 3
CABP4 1 0 1 0 0 2
GNAT2 2 0 0 0 0 2
GNAT2, LOC129388577 1 0 0 0 0 1
OPA3 0 1 0 0 0 1
OPN1MW 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 14 3 79 24 23 143
Illumina Laboratory Services, Illumina 0 0 66 12 10 88
Molecular Genetics Laboratory, Institute for Ophthalmic Research 31 4 10 0 0 45
Sharon lab, Hadassah-Hebrew University Medical Center 19 10 0 0 0 29
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 2 1 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 1 0 0 0 5
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 4 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 4
DBGen Ocular Genomics 2 2 0 0 0 4
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1

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