ClinVar Miner

List of variants reported as pathogenic for Androgen resistance syndrome by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
AR, PARTIAL DEL
NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
NM_000044.6(AR):c.1732G>A (p.Gly578Arg) rs137852596
NM_000044.6(AR):c.1739G>T (p.Cys580Phe) rs137852586
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) rs137852587
NM_000044.6(AR):c.1771A>T (p.Lys591Ter) rs137852566
NM_000044.6(AR):c.178C>T (p.Gln60Ter) rs137852575
NM_000044.6(AR):c.179dup (p.Gln61fs) rs759327087
NM_000044.6(AR):c.180_181del (p.Gln61fs) rs869320731
NM_000044.6(AR):c.2033T>C (p.Leu678Pro) rs137852579
NM_000044.6(AR):c.2069A>C (p.His690Pro) rs137852599
NM_000044.6(AR):c.2123T>G (p.Leu708Arg) rs137852585
NM_000044.6(AR):c.2137C>T (p.Leu713Phe) rs137852595
NM_000044.6(AR):c.2157G>A (p.Trp719Ter) rs137852563
NM_000044.6(AR):c.2231G>A (p.Gly744Glu) rs137852600
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) rs869320732
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000044.6(AR):c.2343G>T (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2362A>G (p.Met788Val) rs137852570
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2571C>G (p.Phe857Leu) rs137852598
NM_000044.6(AR):c.2596T>C (p.Ser866Pro) rs137852597
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2650A>T (p.Lys884Ter) rs137852568
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594

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.