ClinVar Miner

Variants from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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
67 83 27 0 0 177

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCA4 61 76 27 164
ABCA4, LOC126805793 4 5 0 9
ABCA4, LOC126805794 2 2 0 4

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance total
Severe early-childhood-onset retinal dystrophy 67 83 27 177

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