ClinVar Miner

Variants from O&I group, Department of Genetics, University Medical Center of Groningen

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 total
15 9 34 0 0 58

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CACNA1A 3 2 5 10
FAT1 0 0 6 6
KCNC3 2 1 2 5
KIF26B 1 0 3 4
FAT2, SLC36A1 1 0 2 3
KCND3 2 1 0 3
SPTBN2 0 0 3 3
TGM6 2 0 1 3
AFG3L2 1 0 1 2
GRM1 1 0 1 2
PDYN 1 0 1 2
PRKCG 1 1 0 2
ATXN10 0 0 1 1
ATXN2 0 0 1 1
ATXN7 0 0 1 1
CACNA1G 0 1 0 1
CCDC88C 0 0 1 1
DAB1 0 0 1 1
ELOVL5 0 0 1 1
EP300 0 0 1 1
FAT1, LOC126807255 0 0 1 1
MME 0 1 0 1
NOP56 0 1 0 1
TRPC3 0 0 1 1
TTBK2 0 1 0 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal dominant cerebellar ataxia 1 0 11 12
Spinocerebellar ataxia type 6 3 2 5 10
Spinocerebellar ataxia type 13 2 1 2 5
Spinocerebellar ataxia 45 1 0 2 3
Spinocerebellar ataxia type 19/22 2 1 0 3
Spinocerebellar ataxia type 35 2 0 1 3
Spinocerebellar ataxia type 5 0 0 3 3
Spinocerebellar ataxia 44 1 0 1 2
Spinocerebellar ataxia type 14 1 1 0 2
Spinocerebellar ataxia type 23 1 0 1 2
Spinocerebellar ataxia type 28 1 0 1 2
Spinocerebellar ataxia 43 0 1 0 1
Spinocerebellar ataxia 7 0 0 1 1
Spinocerebellar ataxia type 10 0 0 1 1
Spinocerebellar ataxia type 11 0 1 0 1
Spinocerebellar ataxia type 2 0 0 1 1
Spinocerebellar ataxia type 36 0 1 0 1
Spinocerebellar ataxia type 37 0 0 1 1
Spinocerebellar ataxia type 38 0 0 1 1
Spinocerebellar ataxia type 40 0 0 1 1
Spinocerebellar ataxia type 41 0 0 1 1
Spinocerebellar ataxia type 42 0 1 0 1

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