ClinVar Miner

Variants from LDLR-LOVD, British Heart Foundation

Location: United Kingdom  Primary collection method: literature only
Minimum submission review status: Collection method:
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Gene type:
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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
576 789 117 178 26 1686

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 562 786 117 175 24 1664
LDLR, MIR6886 9 2 0 3 1 15
LDLR, LOC126862855, LOC126862856 3 0 0 0 0 3
LDLR, LOC126862856 1 1 0 0 0 2
LDLR, LOC126862855 0 0 0 0 1 1
LDLR, LOC126862855, LOC126862856, MIR6886 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypercholesterolemia, familial, 1 576 787 112 178 26 1679
Familial hypercholesterolemia 0 2 5 0 0 7

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