ClinVar Miner

Variants from Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences

Location: Slovakia  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
208 5 0 0 4 217

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic benign total
HGD 205 2 4 211
ABCA1 0 1 0 1
APOC3 0 1 0 1
EXOSC3 1 0 0 1
HGD, LOC126806786 0 1 0 1
KAT6B 1 0 0 1
NEDD4L 1 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic benign total
Alkaptonuria 205 3 4 212
Apolipoprotein c-III deficiency 0 1 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Hypoalphalipoproteinemia, primary, 1 0 1 0 1
Periventricular nodular heterotopia 7 1 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 1

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