List of variants reported as uncertain significance for Prader-Willi syndrome

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)	rs148150960	0.00031
NM_004667.6(HERC2):c.7069+3G>A	rs778173804	0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)	rs759661460	0.00003
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)	rs1377524842	0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)	rs1009967374	0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)	rs964772041	0.00001
NM_002487.3(NDN):c.212A>G (p.Gln71Arg)	rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs)	rs1891151702
NM_002487.3(NDN):c.533G>A (p.Arg178Lys)	rs1555376130
NM_002487.3(NDN):c.871C>A (p.Pro291Thr)	rs2140756886
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)	rs1267004913
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)	rs779748148

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.