ClinVar Miner

Variants studied for 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
3 12 0 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic total
OCA2 0 4 4
DCT 0 3 3
GPR143 0 2 2
HPS4 2 0 2
LURAP1L, TYRP1 1 1 2
TYR 0 2 2

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic total
NIHR Bioresource Rare Diseases, University of Cambridge 1 8 9
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 3 3
Institute of Human Genetics, University Hospital Muenster 2 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1

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