ClinVar Miner

Variants from Bioinformatics Core,Luxembourg Center for Systems Biomedicine

Location: Luxembourg — Primary collection method: case-control
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
111 0 0 0 0 111

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic total
GRIN2A 12 12
DEPDC5 11 11
SZT2 11 11
SPTAN1 7 7
CNTNAP2 6 6
RELN 5 5
SCN1A, SCN9A 5 5
CHD2 4 4
KCNQ3 4 4
RBFOX1 4 4
ASAH1 3 3
GABRG2 3 3
LOC101927870, RELN 3 3
PRICKLE1 3 3
STRADA 3 3
CPA6 2 2
SCARB2 2 2
SCN2A 2 2
WWOX 2 2
CPA6, LOC102724708 1 1
CSTB 1 1
EPM2A 1 1
GRIN1 1 1
IER3IP1 1 1
KCNT1 1 1
LOC102724058, SCN1A 1 1
MAF, WWOX 1 1
PCDH19 1 1
PLCB1 1 1
PRICKLE2 1 1
RBFOX3 1 1
SCN1A 1 1
SCN1B 1 1
SIK1B 1 1
SLC2A1 1 1
SLC6A1 1 1
SNIP1 1 1
TBC1D24 1 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic total
Rolandic epilepsy 111 111

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