ClinVar Miner

Variants studied for Oguchi disease-2

Included ClinVar conditions (1):
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 total
6 20 0 1 0 24

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic likely benign total
GRK1 4 20 1 22
SAG 2 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic likely benign total
Molecular Medicine, University of Leeds 0 19 0 19
OMIM 4 0 0 4
Medical Molecular Genetics Department, National Research Center 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 1

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