ClinVar Miner

Variants studied for porphyrin metabolism disease

Included ClinVar conditions (61):
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 affects association other not provided total
552 344 1119 243 359 5 1 1 28 2459

Gene and significance breakdown #

Total genes and gene combinations: 65
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
ABCB11 84 100 125 28 36 0 0 0 0 340
ATP8B1 43 49 119 13 40 0 0 0 6 254
ABCC2 28 14 100 13 25 0 0 0 0 172
FECH 24 10 59 40 30 0 0 0 1 155
ABCB4 38 33 63 6 16 0 0 0 0 145
SLCO1B3, SLCO1B3-SLCO1B7 5 1 100 19 25 0 0 0 0 138
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 44 20 65 9 9 5 0 1 0 120
HMBS 58 18 36 9 11 0 0 0 2 119
SLCO1B1 4 0 77 18 28 0 0 0 0 118
ALAD 6 2 60 11 13 0 0 0 0 90
VPS33B 17 8 40 8 14 0 1 0 0 88
TJP2 33 20 16 3 8 0 0 0 0 76
CPOX 5 5 26 5 32 0 0 0 1 70
PPOX 20 6 34 4 3 0 0 0 2 63
UROS 22 1 21 5 8 0 0 0 9 57
ALAS2 19 4 16 4 13 0 0 0 3 55
UROD 16 8 27 4 1 0 0 0 3 53
UTP4 0 0 28 4 8 0 0 0 0 39
USP53 10 13 7 0 0 0 0 0 0 30
VIPAS39 11 5 5 3 0 0 0 0 0 24
CPOX, LOC129937121 0 0 13 0 10 0 0 0 0 23
ABCB11, LOC126806400 6 7 9 1 0 0 0 0 0 21
MYO5B 11 0 5 3 1 0 0 0 0 20
SLC25A38 0 0 13 4 1 0 0 0 0 18
NR1H4 5 4 4 0 0 0 0 0 0 13
HFE 3 1 7 0 0 0 0 0 0 11
ALAD, LOC130002419 0 0 5 5 0 0 0 0 0 10
ALAS2, LOC108663984 0 2 6 0 2 0 0 0 0 10
HMOX1 7 2 1 1 0 0 0 0 0 10
ABCB6 0 0 0 2 9 0 0 0 0 9
ABCC2, LOC108281165 0 0 7 1 1 0 0 0 0 9
SLCO1B3 2 0 3 1 3 0 0 0 0 9
DPAGT1, HMBS 0 0 0 4 4 0 0 0 0 8
KIF12 4 4 2 0 0 0 0 0 0 8
ZFYVE19 6 0 2 0 0 0 0 0 0 8
ABCC2, LOC126861012 0 0 2 3 2 0 0 0 0 7
ABCC2, LOC126861013 1 2 3 0 1 0 0 0 0 7
FECH, LOC130062554 0 0 2 3 0 0 0 0 0 5
ALAS2, LOC108663984, PAGE2B 1 1 1 1 0 0 0 0 0 4
ATP8B1, LOC126862761 2 0 2 0 0 0 0 0 0 4
MYO5B, SNHG22 0 1 1 2 0 0 0 0 0 4
SLC51A 1 0 2 0 0 0 0 0 0 3
​intergenic 2 0 0 0 0 0 0 0 0 2
ABCB4, LOC129998756 0 0 0 0 2 0 0 0 0 2
CLPX 1 1 0 0 1 0 0 0 0 2
FBN1 1 0 1 0 0 0 0 0 0 2
FECH, LOC129390998 0 0 0 2 0 0 0 0 0 2
FECH, LOC130062560 1 1 0 0 0 0 0 0 0 2
LOC129930433, UROD 1 0 1 0 0 0 0 0 0 2
SLCO1B1, SLCO1B3, SLCO1B7 1 1 0 0 0 0 0 0 0 2
UGT1A1 2 0 0 0 0 0 0 0 0 2
ABCB4, LOC129998757 0 0 1 0 0 0 0 0 0 1
ACO2 1 0 0 0 0 0 0 0 0 1
ALAS2, APEX2 0 0 0 0 1 0 0 0 0 1
ALAS2, PAGE2B 1 0 0 0 0 0 0 0 0 1
ATP8B1, LOC126862761, LOC126862762, LOC129390999 1 0 0 0 0 0 0 0 0 1
B4GALT3, PPOX, USP21 1 0 0 0 0 0 0 0 0 1
FECH, LOC130062555 1 0 1 1 1 0 0 0 0 1
GATA1 0 0 0 0 0 0 0 0 1 1
GLB1 1 0 0 0 0 0 0 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 1 0 0 0 0 0 1
LOC129930432, UROD 0 0 0 1 0 0 0 0 0 1
LOC129936510, SLC25A38 0 0 1 0 0 0 0 0 0 1
LOC130062487, MYO5B 0 0 0 1 0 0 0 0 0 1
SEMA7A 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
Illumina Laboratory Services, Illumina 11 5 794 174 291 0 0 0 0 1266
OMIM 261 0 1 0 0 5 0 0 0 262
Baylor Genetics 91 97 30 0 0 0 0 0 0 217
Fulgent Genetics, Fulgent Genetics 8 10 58 15 5 0 0 0 0 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 34 28 23 0 0 0 0 91
Neuberg Centre For Genomic Medicine, NCGM 14 25 49 1 0 0 0 0 0 86
Natera, Inc. 13 5 22 20 16 0 0 0 0 76
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 49 20 1 0 0 0 0 0 0 70
Genome-Nilou Lab 1 0 2 0 62 0 0 0 0 65
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 35 26 0 0 0 0 0 0 0 61
Mendelics 22 20 10 1 8 0 0 0 0 61
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 16 21 24 0 0 0 0 0 0 61
Revvity Omics, Revvity 9 12 39 0 0 0 0 0 0 60
3billion 25 15 10 7 0 0 0 0 0 57
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 2 10 1 0 0 0 0 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 7 7 12 0 0 0 0 0 0 26
GeneReviews 1 0 0 0 0 0 0 0 24 25
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 14 3 0 0 0 0 0 0 0 17
Centogene AG - the Rare Disease Company 3 6 6 0 0 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 6 3 5 0 1 0 0 0 0 15
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 7 0 0 1 6 0 0 0 0 14
MGZ Medical Genetics Center 4 2 7 0 0 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 5 0 0 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 12 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 4 1 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 2 4 0 0 0 0 0 0 10
Genomics And Bioinformatics Analysis Resource, Columbia University 4 6 0 0 0 0 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 3 1 0 0 0 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 1 2 0 0 0 0 0 0 9
Phillips Lab, Hematology, University of Utah 0 0 0 2 9 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 4 2 2 0 0 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 3 0 0 0 0 0 0 0 7
Neonatal Research Center, Shiraz University of Medical Science 6 1 0 0 0 0 0 0 0 7
Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine 2 2 3 0 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 1 0 6
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 4 0 0 0 0 0 0 0 6
CSER _CC_NCGL, University of Washington 0 1 3 2 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 4 0 0 0 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 3 1 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 2 0 0 0 0 0 0 5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 3 0 0 0 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 1 3 1 0 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 1 0 0 0 0 0 0 4
Ege University Pediatric Genetics, Ege University 3 0 1 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 1 2 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 0 0 0 3
Endocrinology Department, First Hospital Of Shanxi Medical University 3 0 0 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 2 0 0 0 0 0 0 3
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai 2 0 0 0 1 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 2 0 0 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 1 1 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 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 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 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 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 0 2 0 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 1 0 0 0 0 0 0 2
Immunology and Liver Gene Transfer, Genethon 2 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 0 0 0 2
Department of Genetics, Suzhou Beikang Medical Laboratory 0 2 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 0 0 0 1
Research Center for Immunodeficiencies, Tehran University of Medical Sciences 0 0 0 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Medical Genetics, Hospital Clinico Universitario Virgen de la Arrixaca 1 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 0 0 0 0 1
Liver Center, Tokai University School of Medicine 1 0 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 0 0 0 1
Molecular Pathology Laboratory, Viapath at King's College Hospital 1 0 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Center of Laboratory Medicine, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 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 0 0 0 1
Fetal and Placental Pathology Unit, Hospital Habib Bougatfa 0 1 0 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 1 0 0 0 0 0 0 0 0 1

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