ClinVar Miner

Variants studied for Familial hypercholesterolemias

Coded as:
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
85 48 343 356 106 928

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APOB 2 0 235 214 71 522
LDLR 81 46 46 71 14 248
PCSK9 1 2 55 66 18 142
APOB, LOC106560211 0 0 4 4 2 10
APOB, APOB3'MAR 0 0 2 1 1 4
ABCA1 0 0 1 0 0 1
LDLR, MIR6886 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Color 44 36 342 356 105 883
Integrated Genetics/Laboratory Corporation of America 50 15 0 0 0 65
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Molecular Innovation in Lipidology,National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 1

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