ClinVar Miner

Variants from Clinical Genetics Research Group, University of Calgary

Location: Canada — 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 total
26 4 0 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic total
SF3B4 18 0 18
HNRNPK 8 0 8
PISD 0 2 2
DPH1 0 1 1
SIX1 0 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic total
Nager syndrome 18 0 18
PISD-related mitochondrial disease 0 2 2
Branchiootic syndrome 3 0 1 1
not provided 0 1 1

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