ClinVar Miner

List of variants studied for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NG_008365.2(SRD5A2):g.87047G>C rs632148 0.68927
NM_000348.4(SRD5A2):c.*1552G>A rs1042578 0.16392
NM_000348.4(SRD5A2):c.*849A>G rs9332975 0.13522
NM_000348.4(SRD5A2):c.*91C>T rs192604242 0.09986
NM_000348.4(SRD5A2):c.*88T>A rs370989010 0.09406
NM_000348.4(SRD5A2):c.*1056G>C rs28383085 0.04363
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_000348.4(SRD5A2):c.*1273A>G rs28383086 0.00863
NM_000348.4(SRD5A2):c.*224A>T rs28383083 0.00862
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_000348.4(SRD5A2):c.*981G>A rs191186592 0.00429
NM_000348.4(SRD5A2):c.*372G>A rs147184986 0.00370
NM_000348.4(SRD5A2):c.*672T>A rs75984166 0.00167
NM_000348.4(SRD5A2):c.*120G>A rs578234141 0.00133
NM_000348.4(SRD5A2):c.*119C>T rs187924868 0.00051
NM_000348.4(SRD5A2):c.*1422G>A rs757100337 0.00011
NM_000348.4(SRD5A2):c.*278C>T rs151234587 0.00011
NM_000348.4(SRD5A2):c.-20C>T rs769873996 0.00003
NM_000348.4(SRD5A2):c.*392A>C rs1194956705 0.00002
NM_000348.3(SRD5A2):c.-55G>A rs577957973 0.00001
NM_000348.4(SRD5A2):c.*1133A>G rs886055949 0.00001
NM_000348.4(SRD5A2):c.*1492A>G rs28383088 0.00001
NM_000348.4(SRD5A2):c.*286A>G rs886055952 0.00001
NM_000348.4(SRD5A2):c.*686G>T rs886055950 0.00001
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1242A>G rs1665741244
NM_000348.4(SRD5A2):c.*1290C>A rs549077867
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1384A>G rs1665736847
NM_000348.4(SRD5A2):c.*1440T>G rs1665735409
NM_000348.4(SRD5A2):c.*1504A>T rs1665733488
NM_000348.4(SRD5A2):c.*307A>G rs542605254
NM_000348.4(SRD5A2):c.*510T>G rs1665761786
NM_000348.4(SRD5A2):c.*572C>T rs1665760528
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057

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.