List of variants reported as uncertain significance for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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_000348.4(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

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.