ClinVar Miner

Variants from Research Group Niklas Dahl,Uppsala University

Location: Sweden — 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
5 1 0 0 0 6

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic total
GRID2 1 0 1
ITPR1 1 0 1
RPS7 0 1 1
RTTN 1 0 1
STRC 1 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic total
Deafness, autosomal recessive 16 2 0 2
Diamond-Blackfan anemia 8 0 1 1
Microcephaly, short stature, and polymicrogyria with or without seizures 1 0 1
Spinocerebellar ataxia type 29 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 1 0 1

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