ClinVar Miner

Variants studied for abnormal mineralization disorder

Included ClinVar conditions (28):
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
418 188 882 225 283 1 10 1915

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
CASR 46 30 131 36 21 0 5 259
PHEX 148 43 26 19 10 0 0 240
ENPP1 15 4 103 26 60 0 2 208
CDC73 16 5 138 37 25 0 0 198
VDR 22 8 123 14 16 0 1 178
ANKH, OTULIN 0 0 87 1 62 0 0 150
SLC34A3 27 22 72 35 7 0 1 146
PHEX, PTCHD1 78 30 18 4 7 0 0 130
CYP27B1 28 20 40 10 2 1 0 95
FGF23 4 2 35 11 24 0 0 74
DMP1 4 2 48 5 16 0 0 72
ANKH 5 1 10 2 21 0 0 39
CYP2R1, PDE3B 4 3 12 8 0 0 0 25
GCM2 2 3 13 6 0 0 0 23
CLCN5 3 6 7 5 1 0 1 22
TRPV6 6 9 6 1 0 0 0 19
ANKH, LOC100130744, OTULIN 1 0 0 3 9 0 0 11
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
B3GALT2, CDC73 0 0 1 1 0 0 0 2
CBLL2, PHEX, PTCHD1 2 0 0 0 0 0 0 2
LOC130007784, VDR 0 0 2 0 0 0 0 2
ANKH, LOC129993725 0 0 1 0 0 0 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 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
LOC125446275, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, MBTPS2, PHEX, SMPX, SMS, YY2 1 0 0 0 0 0 0 1
MEN1 1 0 0 0 0 0 0 1
PHYH 0 0 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Illumina Laboratory Services, Illumina 3 2 529 87 257 0 0 853
Fulgent Genetics, Fulgent Genetics 32 22 241 132 9 0 0 436
Mendelics 95 23 5 2 7 0 0 132
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 128 2 1 0 0 0 0 131
OMIM 118 0 0 0 0 0 0 118
Baylor Genetics 10 4 42 0 0 0 0 56
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 15 12 0 0 0 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 19 0 0 0 0 0 35
Revvity Omics, Revvity 6 5 18 0 0 0 0 29
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 6 12 0 0 0 0 22
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 8 7 7 0 0 0 0 22
3billion 10 5 6 1 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 2 10 8 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 6 4 0 0 0 0 19
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
Genome-Nilou Lab 0 0 0 0 15 0 0 15
MVZ Medizinische Genetik Mainz 3 1 7 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 1 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 3 3 0 0 0 0 9
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 7 0 0 0 0 0 9
MGZ Medical Genetics Center 3 4 1 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 3 3 0 0 0 0 8
Genomenon, Inc, Genomenon, Inc 8 0 0 0 0 0 0 8
Institute of Human Genetics, Cologne University 0 1 6 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 1 6 0 0 0 0 0 7
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 4 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 4 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 0 4
Suma Genomics 1 2 1 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 1 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 2 0 0 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 3 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 3
MNM Diagnostics 3 0 0 0 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 2 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
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 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
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 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
DASA 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 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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