ClinVar Miner

Variants from Human Genetics,Leiden University Medical Centre

Location: Netherlands — Primary collection method: research
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 association total
0 0 0 0 0 1 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination association total
HPS5, LDHA 1 1

Condition and significance breakdown #

Total conditions: 1
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Condition association total
decreased blood alpha-hydroxyisovalerate levels 1 1

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