ClinVar Miner

Variants studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
128 200 580 91 54 3 1014

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX1 29 75 50 4 3 0 148
PEX6 22 33 49 8 9 1 115
PEX26 7 2 54 22 10 0 95
PEX12 16 30 40 6 4 0 91
PEX2 9 7 54 9 6 0 82
PEX5 2 0 60 7 5 0 74
PEX10 7 18 37 4 3 0 68
GATAD1, PEX1 9 27 36 1 0 1 66
PEX13 6 0 45 4 4 0 58
PEX19 2 0 43 10 1 0 56
PEX16 2 0 30 7 5 1 43
PEX14 2 0 26 5 2 0 35
PEX3 2 1 27 3 2 0 35
PEX7 12 5 3 1 0 0 19
PEX10, RER1 0 0 14 0 0 0 14
LOC113788293, PEX2 0 0 5 0 0 0 5
PEX10, PLCH2 1 2 2 0 0 0 5
PEX13, PUS10 0 0 5 0 0 0 5

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 4 453 85 42 0 588
Counsyl 19 167 86 4 0 0 276
Invitae 50 7 34 0 4 0 95
OMIM 51 0 0 0 0 0 51
Integrated Genetics/Laboratory Corporation of America 20 11 0 0 0 0 31
Baylor Genetics 19 9 0 0 0 0 28
Fulgent Genetics,Fulgent Genetics 5 1 20 1 0 0 27
Mendelics 1 0 0 1 7 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 4 0 0 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
Johns Hopkins Genomics,Johns Hopkins University 1 2 1 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1

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