ClinVar Miner

List of variants studied for Schmid metaphyseal chondrodysplasia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.1900del (p.Asp634fs)
NM_000493.4(COL10A1):c.1951_1952dup (p.Trp651fs) rs2114276983
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg) rs2114276916
NM_000493.4(COL10A1):c.1989C>A (p.Tyr663Ter) rs2114276588
NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) rs111033550

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.