ClinVar Miner

Variants studied for Duane retraction syndrome

Included ClinVar conditions (6):
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
17 0 17 7 0 1 42

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign not provided total
CHN1 10 17 7 1 35
MAFB 4 0 0 0 4
COL25A1 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 17 7 0 24
OMIM 13 0 0 0 13
Engle Laboratory,Boston Children's Hospital 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 1

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