ClinVar Miner

Variants from Department of Medical Sciences,Uppsala University

Location: Sweden — Primary collection method: clinical testing
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 total
95 1 1 2 0 99

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL1A1 72 1 0 1 74
COL1A2 22 0 1 1 24
COL1A1, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 3
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Osteogenesis imperfecta type I 64 1 0 0 65
Osteogenesis imperfecta with normal sclerae, dominant form 20 0 0 1 21
Osteogenesis imperfecta type III 14 0 1 1 16

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.