ClinVar Miner

Variants studied for hepatic porphyria

Included ClinVar conditions (18):
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
140 52 276 91 115 12 637

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FECH 24 10 59 40 30 1 155
HMBS 58 18 36 9 11 2 119
ALAD 6 2 60 11 13 0 90
CPOX 2 4 26 5 32 1 67
PPOX 20 6 34 4 3 2 63
UROD 16 8 27 4 1 3 53
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
LOC129930432, UROD 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 1 220 85 98 0 406
OMIM 99 0 0 0 0 0 99
Fulgent Genetics, Fulgent Genetics 2 2 12 2 0 0 18
Mendelics 7 3 2 0 3 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 5 6 0 0 0 13
Revvity Omics, Revvity 4 6 1 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 6 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 2 6 0 0 0 10
Phillips Lab, Hematology, University of Utah 0 0 0 2 9 0 9
GeneReviews 0 0 0 0 0 8 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 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
Genome-Nilou Lab 0 0 0 0 6 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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 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
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
3billion 1 1 0 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
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 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
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
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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