ClinVar Miner

Variants studied for porphyria

Included ClinVar conditions (23):
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
169 55 298 96 123 22 704

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FECH 26 10 59 40 30 1 157
HMBS 60 18 36 9 11 2 121
ALAD 6 2 60 11 13 0 90
CPOX 5 5 26 5 32 1 70
PPOX 20 6 35 4 3 2 64
UROS 22 1 21 5 8 9 57
UROD 16 9 27 4 1 3 54
CPOX, LOC129937121 0 0 13 0 10 0 23
HFE 3 1 7 0 0 0 11
ALAD, LOC130002419 0 0 5 5 0 0 10
ABCB6 0 0 0 2 9 0 9
ALAS2 4 0 4 0 0 3 9
DPAGT1, HMBS 0 0 0 4 4 0 8
FECH, LOC130062554 0 0 2 3 0 0 5
ALAS2, LOC108663984 0 1 1 0 0 0 2
CLPX 1 1 0 0 1 0 2
FECH, LOC129390998 0 0 0 2 0 0 2
FECH, LOC130062560 1 1 0 0 0 0 2
LOC129930433, UROD 1 0 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ACO2 1 0 0 0 0 0 1
B4GALT3, PPOX, USP21 1 0 0 0 0 0 1
FECH, LOC130062555 1 0 1 1 1 0 1
GATA1 0 0 0 0 0 1 1
LOC129930432, UROD 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 3 1 239 90 104 0 437
OMIM 123 0 0 0 0 0 123
Fulgent Genetics, Fulgent Genetics 4 3 13 2 0 0 22
GeneReviews 1 0 0 0 0 18 19
Mendelics 7 3 2 0 3 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 6 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 3 3 8 0 0 0 14
Revvity Omics, Revvity 5 6 2 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 6 0 0 0 13
Phillips Lab, Hematology, University of Utah 0 0 0 2 9 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Baylor Genetics 2 1 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 2 1 0 0 7
Centogene AG - the Rare Disease Company 0 2 4 0 0 0 6
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 1 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 3 0 0 0 0 4
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 0 3
Endocrinology Department, First Hospital Of Shanxi Medical University 3 0 0 0 0 0 3
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 2 0 0 0 1 0 3
3billion, Medical Genetics 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Medical Genetics, Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Center of Laboratory Medicine, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1
Department of Surgical Oncology, and Genetic Counseling Unit of Clinical Genomics Center, Nagasaki University Graduate School of Biomedical Sciences 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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