List of variants in gene NR5A1 reported as uncertain significance for 46,XY complete gonadal dysgenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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	gnomAD frequency
NM_004959.5(NR5A1):c.1138+5G>A	rs1832300085
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.236_238del (p.Arg79del)	rs1554721859
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser)	rs2131287358
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp)	rs1832445795
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)	rs2131289962

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.