ClinVar Miner

Variants studied for Nystagmus; Poor eye contact; Ocular albinism

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
0 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
GPR143 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter likely pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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