ClinVar Miner

Variants studied for rickets

Included ClinVar conditions (21):
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 likely risk allele not provided total
351 143 513 138 146 1 5 1242

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
PHEX 155 43 27 19 10 0 0 247
ENPP1 15 6 103 26 60 0 2 208
VDR 21 8 137 14 17 0 1 192
SLC34A3 26 22 72 35 7 0 1 145
PHEX, PTCHD1 82 31 17 4 7 0 0 135
CYP27B1 27 19 41 10 2 1 0 94
DMP1 5 3 48 5 16 0 0 74
FGF23 4 2 35 11 24 0 0 74
CYP2R1, PDE3B 4 3 12 8 0 0 0 25
CLCN5 3 6 7 5 1 0 1 22
CLCN5, LOC126863258 1 0 5 0 0 0 0 6
LOC130003098, SLC34A3 0 0 4 0 1 0 0 5
LOC130068043, PHEX, PTCHD1 4 0 0 0 0 0 0 4
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 0 2
LOC130007784, VDR 0 0 2 0 0 0 0 2
CA1 0 0 1 0 0 0 0 1
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1 1 0 0 0 0 0 0 1
CYP2R1, LOC130005371, PDE3B 0 0 0 1 0 0 0 1
CYP3A4 1 0 0 0 0 0 0 1
HADHB 0 0 1 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 1
WDR72 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Illumina Laboratory Services, Illumina 2 2 326 49 129 0 0 508
Fulgent Genetics, Fulgent Genetics 20 15 134 83 7 0 0 259
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 128 2 1 0 0 0 0 131
Mendelics 92 21 3 1 4 0 0 121
OMIM 70 0 0 0 0 0 0 70
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 23 13 2 0 0 0 0 38
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 13 8 0 0 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 19 0 0 0 0 0 29
Revvity Omics, Revvity 5 5 17 0 0 0 0 27
3billion 10 5 6 1 0 0 0 22
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 5 9 0 0 0 0 17
Neuberg Centre For Genomic Medicine, NCGM 1 9 7 0 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 9 3 0 0 16
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 13 2 1 0 0 0 0 16
MVZ Medizinische Genetik Mainz 3 1 7 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 0 10
Baylor Genetics 6 3 0 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 0 0 8
Genomenon, Inc, Genomenon, Inc 8 0 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 3 2 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 2 0 0 6
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 0 6
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 4 0 0 0 0 6
MGZ Medical Genetics Center 1 3 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 3 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 2 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 2 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 2 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 0 3
MNM Diagnostics 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 0 1 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 0 2
American University of Beirut, Same Uiversity Hospital 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 1 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 1
Genos 1 0 0 0 0 0 0 1

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