ClinVar Miner

Variants from University Children's Hospital, University of Zurich

Location: Germany — Primary collection method: clinical testing
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
108 0 1 0 0 109

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance total
MTHFR 48 0 48
MMUT 41 0 41
MMAA 19 1 20

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance total
Homocysteinemia due to MTHFR deficiency 48 0 48
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 41 0 41
Methylmalonic aciduria cblA type 19 1 20

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