ClinVar Miner

Variants studied for Duane retraction syndrome

Included ClinVar conditions (9):
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 not provided total
19 4 68 7 4 1 103

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHN1 10 1 39 5 4 1 60
MAFB 4 0 6 2 0 0 12
COL25A1 4 3 1 0 0 0 8
CHN1, LOC126806410 0 0 5 0 0 0 5
GNAS 0 0 4 0 0 0 4
CUX1 0 0 3 0 0 0 3
ACTR1B 0 0 2 0 0 0 2
FER 0 0 2 0 0 0 2
KIF5C 0 0 2 0 0 0 2
​intergenic 0 0 1 0 0 0 1
CHN1, LOC129935151 0 0 1 0 0 0 1
COL7A1 0 0 1 0 0 0 1
KIF1A 0 0 1 0 0 0 1
WFS1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 42 5 4 0 51
OMIM 16 0 0 0 0 0 16
Broad Institute Rare Disease Group, Broad Institute 0 0 15 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 6 2 0 0 8
Engle Laboratory, Boston Children's Hospital 4 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 1 0 0 0 3
Revvity Omics, Revvity Omics 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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