ClinVar Miner

Variants studied for hereditary hypophosphatemic rickets

Included ClinVar conditions (12):
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
296 181 675 118 127 4 1353

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENPP1 18 17 183 28 60 2 306
SLC34A3 28 48 199 38 7 1 300
PHEX 149 48 59 21 11 0 280
PHEX, PTCHD1 79 34 28 5 7 0 145
DMP1 4 4 94 7 16 0 120
FGF23 4 4 61 11 24 0 101
CLCN5 7 22 33 8 1 1 71
CLCN5, LOC126863258 1 4 11 0 0 0 16
LOC130003098, SLC34A3 0 0 7 0 1 0 8
LOC130068043, PHEX, PTCHD1 4 0 0 0 0 0 4
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 2
CBLL2, LOC126863223, LOC126863224, LOC126863225, LOC126863226, PHEX, PTCHD1 1 0 0 0 0 0 1
LOC125446275, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, MBTPS2, PHEX, SMPX, SMS, YY2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 28 84 469 76 7 0 664
Illumina Laboratory Services, Illumina 2 0 184 35 112 0 333
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 128 2 1 0 0 0 131
Mendelics 87 21 2 1 3 0 114
OMIM 33 0 0 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 13 0 0 0 0 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 7 12 2 0 0 0 21
Revvity Omics, Revvity 2 2 13 0 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 5 8 0 0 0 16
3billion, Medical Genetics 7 3 3 1 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 8 3 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 11 2 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 7 6 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 2 0 0 0 12
MVZ Medizinische Genetik Mainz 3 1 7 0 0 0 11
Genomenon, Inc, Genomenon, Inc 8 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 5 1 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 0 6
Baylor Genetics 3 2 0 0 0 0 5
MGZ Medical Genetics Center 1 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 2 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 2 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 2 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 3
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 2 0 1 0 0 0 3
MNM Diagnostics 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 0 1 0 0 1
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1
Genos 1 0 0 0 0 0 1

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