ClinVar Miner

Variants from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge

Location: Portugal — 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
134 71 139 8 51 403

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LDLR 130 63 56 6 21 276
PCSK9 1 6 44 0 19 70
APOB 2 2 33 2 9 48
APOB, LOC106560211 0 0 4 0 1 5
LDLR, MIR6886 0 0 2 0 1 3
LDLR, SMARCA4 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypercholesterolemia 134 71 139 8 51 403

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