ClinVar Miner

List of variants reported as likely pathogenic for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NC_000002.12:g.(?_31531351)_(31531492_?)del
NM_000348.4(SRD5A2):c.281+2T>C
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter) rs781214178
NM_000348.4(SRD5A2):c.35C>A (p.Ala12Glu)
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter) rs1665963551
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) rs1665904910
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036

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.