ClinVar Miner

Variants studied for Zellweger syndrome

Included ClinVar conditions (30):
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
96 184 565 92 60 2 972

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 11 69 45 4 7 0 130
PEX6 17 31 48 9 10 1 111
PEX26 7 2 54 23 9 0 95
PEX12 16 29 39 6 5 0 91
PEX2 5 7 53 8 6 0 76
PEX5 2 0 60 7 3 0 72
PEX10 6 18 36 4 3 0 66
GATAD1, PEX1 6 22 34 1 0 1 62
PEX13 6 0 44 4 4 0 57
PEX19 2 0 43 10 3 0 57
PEX16 2 0 29 7 4 0 41
PEX3 3 1 27 3 2 0 36
PEX14 2 0 24 5 4 0 33
PEX7 10 2 3 1 0 0 15
PEX10, RER1 0 0 14 0 0 0 14
PEX10, PLCH2 1 3 2 0 0 0 6
LOC113788293, PEX2 0 0 5 0 0 0 5
PEX13, PUS10 0 0 5 0 0 0 5

Submitter and significance breakdown #

Total submitters: 22
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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 22 168 86 4 0 0 280
Invitae 14 1 19 2 17 0 53
OMIM 51 0 0 0 0 0 51
Integrated Genetics/Laboratory Corporation of America 19 12 0 0 0 0 31
Fulgent Genetics 5 1 20 1 0 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 0 0 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 0 3 0 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 5
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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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