ClinVar Miner

Variants from Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile

Location: Chile — 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
11 0 0 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic total
CYP27A1 3 3
AGPAT2 2 2
GCK 2 2
LCAT 2 2
APOA5 1 1
MT-TL1 1 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic total
Cholestanol storage disease 3 3
Congenital generalized lipodystrophy type 1 2 2
Maturity-onset diabetes of the young, type 2 2 2
Norum disease 2 2
Diabetes-deafness syndrome maternally transmitted 1 1
Familial hypertriglyceridemia 1 1

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