ClinVar Miner

List of variants studied for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001354.5(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001818.4(AKR1C4):c.85-106G>T rs398122815

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.