ClinVar Miner

Variants studied for PAX6-related ocular dysgenesis

Included ClinVar conditions (7):
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
8 4 83 10 45 150

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELP4, PAX6 2 0 57 2 37 98
PAX6 4 3 15 5 7 34
LOC106014249, PAX6 0 0 4 0 1 5
COL4A1 1 0 2 0 0 3
COL4A2 0 1 2 0 0 3
CYP26C1 0 0 0 2 0 2
CYP26A1 0 0 1 0 0 1
LOC132090076, SOX5 1 0 0 0 0 1
OPA1 0 0 1 0 0 1
SPG7 0 0 1 0 0 1
UBE3B 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 75 5 45 125
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 2 7 3 0 14
Fulgent Genetics, Fulgent Genetics 2 0 1 1 0 4
OMIM 3 0 0 0 0 3
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1

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