List of variants in gene NR0B1 reported as pathogenic for 46,XY sex reversal 2

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)	rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
NM_000475.5(NR0B1):c.552del (p.Glu185fs)	rs1555973115
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)	rs1131691564
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)	rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)	rs1324519932
NR0B1, DUP

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.