ClinVar Miner

Variants in gene ABCA1

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Minimum submission review status: Collection method:
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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
27 3 180 55 136 318

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Tangier disease 16 1 161 33 60 269
Familial hypoalphalipoproteinemia 6 0 103 26 107 241
not specified 0 0 4 9 26 39
not provided 3 0 9 8 15 34
Familial High Density Lipoprotein Deficiency 0 0 5 5 8 18
ABCA1-Related Disorders 2 0 1 0 0 3
Familial hypercholesterolemia 1 0 0 2 0 0 2
ABCA1 polymorphism 0 0 0 0 1 1
Coronary heart disease in familial hypercholesterolemia, protection against 0 0 0 0 1 1
Early-onset coronary artery disease 0 1 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 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: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 0 160 45 115 255
Integrated Genetics/Laboratory Corporation of America 0 1 7 11 32 51
OMIM 21 0 0 0 2 23
Invitae 1 0 0 5 7 13
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 5 1 0 8
Baylor Genetics 1 1 3 0 0 5
Cincinnati Children's Hospital Medical Center 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
GeneDx 1 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
Mendelics 0 0 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 1

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