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
34 97 191 53 46 388

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 24 73 80 33 26 213
GATAD1, PEX1 8 22 53 12 8 93
PEX16 0 0 8 2 2 12
PEX5 0 0 8 1 3 12
PEX6 1 1 6 1 2 11
PEX26 0 0 6 0 3 9
PEX3 1 1 5 0 0 7
PEX12 0 0 3 2 1 6
PEX2 0 0 4 1 1 6
LOC113788293, PEX2 0 0 5 0 0 5
PEX19 0 0 4 1 0 5
PEX13 0 0 4 0 0 4
PEX14 0 0 2 0 0 2
PEX10, PLCH2 0 0 1 0 0 1
PEX10, RER1 0 0 1 0 0 1
PEX13, PUS10 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 137 12 16 166
Invitae 23 5 29 40 30 127
Counsyl 2 87 31 1 0 121
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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 0 0 2
Myriad Women's Health, Inc. 2 0 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
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 1

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