ClinVar Miner

List of variants in gene NR3C1 reported as pathogenic for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_000176.3(NR3C1):c.1891_1892+2del rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912

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.