ClinVar Miner

Variants studied for coloboma, ocular, autosomal dominant

Included ClinVar conditions (14):
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
12 12 11 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CYP1B1 0 0 4 4
TMEM67 1 3 0 4
WDR37 0 4 0 4
FZD5 1 2 0 3
PAX6 2 0 1 3
PRR12 3 0 0 3
BFSP1 0 0 2 2
CILK1 0 0 2 2
CAPN15 0 1 0 1
CDK5RAP2 0 0 1 1
CDON 0 1 0 1
ELP4, PAX6 1 0 0 1
FIBP 0 1 0 1
MYH10 1 0 0 1
RBP4 1 0 0 1
SLC16A12 0 0 1 1
TFAP2A 1 0 0 1
YAP1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance total
Eye Genetics Research Group,Children's Medical Research Institute 0 0 7 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 0 5
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 4 0 4
Baylor Genetics 3 0 0 3
Genetics Department, University Hospital of Toulouse 1 2 0 3
OMIM 2 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 2 2
Laboratory of Molecular Genetics,CHU Rennes 0 0 1 1
Kasturba Medical College, Manipal University 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
Fundació de Recerca de l'Institut de Microcirurgia Ocular 1 0 0 1
Laboratory of Medical Genetics, INSERM 1 0 0 1

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