ClinVar Miner

Variants studied for autosomal recessive hypophosphatemic rickets

Included ClinVar conditions (5):
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
22 23 279 35 76 2 430

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENPP1 18 19 184 28 60 2 309
DMP1 4 4 95 7 16 0 121

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 138 21 73 0 232
Fulgent Genetics, Fulgent Genetics 5 18 158 14 2 0 197
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 7 1 1 0 11
OMIM 8 0 0 0 0 0 8
Genomenon, Inc, Genomenon, Inc 8 0 0 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Revvity Omics, Revvity 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 2 0 2
3billion 1 0 0 1 0 0 2
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.