ClinVar Miner

List of variants reported as likely pathogenic for diastrophic dysplasia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs)

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.