ClinVar Miner

Variants in gene ABCA1

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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
25 2 61 80 52 209

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Tangier disease 16 1 51 78 37 183
Familial High Density Lipoprotein Deficiency 0 0 50 79 37 166
not provided 1 0 4 2 9 16
not specified 0 0 2 4 5 11
Familial hypoalphalipoproteinemia 5 0 0 0 0 5
ABCA1-Related Disorders 2 0 1 0 0 3
Familial hypercholesterolemia 0 0 2 0 0 2
Coronary heart disease in familial hypercholesterolemia, protection against 0 0 0 0 1 1
Familial hypercholesterolemias 0 0 1 0 0 1
High density lipoprotein cholesterol level quantitative trait locus 13 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 1
Severe Myopia 0 0 1 0 0 1
Tangier disease, variant 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 0 51 79 37 170
OMIM 21 0 0 0 2 23
Integrated Genetics/Laboratory Corporation of America 0 0 5 6 11 22
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 1
GeneDx 1 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 1

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