ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 1A (Zellweger)

Coded as:
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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
29 93 487 87 48 731

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 19 69 44 4 3 131
PEX26 0 0 50 22 10 82
PEX5 0 0 60 7 5 72
GATAD1, PEX1 8 22 34 1 0 61
PEX2 0 0 45 9 6 59
PEX19 0 0 40 10 1 51
PEX13 0 0 40 4 3 47
PEX6 1 1 27 6 6 41
PEX16 0 0 27 7 4 38
PEX12 0 0 25 6 4 35
PEX3 1 1 27 3 2 34
PEX14 0 0 22 5 2 29
PEX10 0 0 21 3 2 26
PEX10, RER1 0 0 14 0 0 14
LOC113788293, PEX2 0 0 5 0 0 5
PEX13, PUS10 0 0 4 0 0 4
PEX10, PLCH2 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 448 85 42 576
Counsyl 4 87 31 1 0 123
Invitae 17 1 12 0 0 30
Mendelics 0 0 0 1 5 6
OMIM 5 0 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 2
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1

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