ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162

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.