List of variants reported as uncertain significance for 46,XY complete gonadal dysgenesis by Illumina Laboratory Services, Illumina

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021044.4(DHH):c.*401G>T	rs550262271	0.00253
NM_021044.4(DHH):c.*110G>C	rs189970312	0.00073
NM_021044.4(DHH):c.1134T>A (p.Thr378=)	rs144444357	0.00053
NM_021044.4(DHH):c.228C>T (p.Asp76=)	rs201597166	0.00048
NM_021044.4(DHH):c.-254G>A	rs577191826	0.00023
NM_021044.4(DHH):c.234G>A (p.Val78=)	rs370468314	0.00018
NM_021044.4(DHH):c.*159G>T	rs886049489	0.00016
NM_021044.4(DHH):c.565+13G>A	rs369743278	0.00010
NM_021044.4(DHH):c.-53G>A	rs913605931	0.00006
NM_021044.4(DHH):c.367C>T (p.Leu123=)	rs760627027	0.00003
NM_021044.4(DHH):c.926G>T (p.Arg309Leu)	rs886049490	0.00003
NM_021044.4(DHH):c.-256C>G	rs563591024	0.00002
NM_021044.4(DHH):c.536G>A (p.Arg179His)	rs768138247	0.00002
NM_021044.4(DHH):c.*427C>T	rs1389748240	0.00001
NM_021044.4(DHH):c.135C>T (p.Tyr45=)	rs765506943	0.00001
NM_021044.4(DHH):c.217C>G (p.Arg73Gly)	rs754182591	0.00001
NM_021044.4(DHH):c.630C>A (p.Ser210Arg)	rs764922471	0.00001
NM_021044.4(DHH):c.726C>T (p.Phe242=)	rs886049491	0.00001
NM_021044.4(DHH):c.*154G>T	rs1939259964
NM_021044.4(DHH):c.*65G>T	rs990245573
NM_021044.4(DHH):c.305G>A (p.Arg102His)	rs149972274
NM_021044.4(DHH):c.587C>A (p.Ala196Glu)	rs755199142
NM_021044.4(DHH):c.656T>G (p.Leu219Arg)	rs1939277254
NM_021044.4(DHH):c.953G>C (p.Arg318Pro)	rs1373354654

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.