ClinVar Miner

List of variants in gene SRD5A3 studied for SRD5A3-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) rs267607094
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) rs267607092
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu)
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886

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.