ClinVar Miner

Variants studied for bone resorption disease

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 association risk factor total
42 20 228 140 43 3 3 465

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
LRP5 2 5 154 92 4 0 0 257
SLC34A1 4 4 39 20 22 0 0 86
COL1A1 15 2 11 8 5 0 0 41
COL1A2 8 1 8 5 0 0 0 22
PLS3 3 5 2 1 1 3 0 14
F12, SLC34A1 0 0 0 10 9 0 0 13
NHERF1 2 1 6 1 0 0 0 8
NHERF1, SLC9A3R1 1 0 3 2 1 0 0 5
WNT1 1 0 0 1 0 0 3 5
HTR2C, IL13RA2, LRCH2, LUZP4, MIR448, PLS3, RBMXL3 2 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 1
ALPL 1 0 0 0 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 0 0 0 1
FBN1 0 0 1 0 0 0 0 1
G6PD 0 0 0 0 1 0 0 1
IFITM5, PGGHG 1 0 0 0 0 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SERPINF1 0 0 1 0 0 0 0 1
SLC34A3 1 0 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Fulgent Genetics, Fulgent Genetics 22 8 192 122 10 0 0 354
Illumina Laboratory Services, Illumina 0 0 21 19 30 0 0 64
OMIM 6 0 0 0 0 3 3 12
Baylor Genetics 2 3 4 0 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 5 0 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 1 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 0 0 2
Mendelics 0 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 0 2
3billion 0 2 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 1 0 0 0 0 0 0 1
Arcensus 0 1 0 0 0 0 0 1

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