ClinVar Miner

Variants studied for Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B

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 not provided total
4 4 0 0 0 2 10

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic not provided total
TYR 4 4 2 10

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic not provided total
Laboratorio de Genetica Humana; Universidad de los Andes 0 1 2 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 2
Baylor Genetics 1 0 0 1
New York Genome Center 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 1

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