ClinVar Miner

Variants studied for Achromatopsia

Coded as:
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
25 11 136 30 9 211

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNGB3 7 2 41 17 4 71
PDE6C 7 5 46 5 4 67
CNGA3 9 3 36 6 0 54
GNAT2 0 0 12 2 1 15
ATF6 1 1 0 0 0 2
CABP4 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 125 30 9 164
Institute for Ophthalmic Research,University Tuebingen 14 3 3 0 0 20
Molecular Genetics Laboratory,Institute for Ophthalmic Research 7 1 7 0 0 15
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 2 1 0 0 6
NIHR Bioresource Rare Diseases,University of Cambridge 1 5 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 0 0 0 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1

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