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
398 155 855 223 283 1 10 1839

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
CASR 45 28 127 36 21 0 5 252
PHEX 144 30 23 18 10 0 0 219
ENPP1 15 2 103 26 60 0 2 205
CDC73 14 4 128 37 25 0 0 185
VDR 20 6 121 14 16 0 1 174
ANKH, OTULIN 0 0 87 1 62 0 0 150
SLC34A3 24 17 68 35 7 0 1 137
PHEX, PTCHD1 74 28 15 4 7 0 0 123
CYP27B1 25 15 40 10 2 1 0 87
FGF23 4 2 34 11 24 0 0 73
DMP1 4 2 48 4 16 0 0 71
ANKH 5 1 10 2 21 0 0 39
CYP2R1 4 3 12 8 0 0 0 25
GCM2 2 3 13 6 0 0 0 23
CLCN5 3 5 7 5 1 0 1 21
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 0 0 0 1 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: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Illumina Laboratory Services, Illumina 3 2 530 87 257 0 0 854
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 8 4 27 0 0 0 0 39
Revvity Omics, Revvity 6 5 18 0 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 15 0 0 0 0 0 25
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 0 0 0 0 21
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 12 2 1 0 0 0 0 15
Genome-Nilou Lab 0 0 0 0 15 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 11 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 2 7 6 0 0 0 0 15
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 8 0 0 0 0 0 0 8
Institute of Human Genetics, Cologne University 0 1 6 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 0 5
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
Medizinische Genetik Mainz, Limbach Genetics GmbH 3 0 1 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
Invitae 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
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
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
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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
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
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
Unidad De Genómica, Hospital Infantil Universitario Niño Jesús 0 1 0 0 0 0 0 1

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