List of variants reported as benign for 46,XY disorder of sex development by Natera, Inc.

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000489.6(ATRX):c.4659T>C (p.His1553=)	rs25641	0.05840
NM_000489.6(ATRX):c.228G>A (p.Ser76=)	rs5959371	0.03016
NM_000489.6(ATRX):c.288A>G (p.Lys96=)	rs45574238	0.01127
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)	rs35738915	0.00636
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)	rs148975763	0.00350
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)	rs146521598	0.00080
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)	rs45624939	0.00075
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)	rs61752457	0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)	rs781984385	0.00006
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)	rs587780285	0.00001
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)	rs61752455
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)	rs782391479

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.