ClinVar Miner

List of variants reported as likely benign for 46,XY disorder of sex development of gynecological interest by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
NM_000348.4(SRD5A2):c.*91C>T rs192604242
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873

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.