ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.4(SRD5A2):c.*1133A>G rs886055949
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*686G>T rs886055950
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955

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.