ClinVar Miner

List of variants reported as likely benign for diastrophic dysplasia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000112.3(SLC26A2):c.*1892dup rs148778566
NM_000112.3(SLC26A2):c.*205G>A rs115383424
NM_000112.3(SLC26A2):c.*4391G>T rs150508217
NM_000112.3(SLC26A2):c.*4799G>A rs72832119
NM_000112.3(SLC26A2):c.*4870dup rs368872246
NM_000112.3(SLC26A2):c.*4930C>T rs79521091
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.4(SLC26A2):c.*2873C>T
NM_000112.4(SLC26A2):c.*3507T>A
NM_000112.4(SLC26A2):c.*4419A>C
NM_000112.4(SLC26A2):c.*443T>C
NM_000112.4(SLC26A2):c.*4659G>T

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.