List of variants reported as benign for Deafness-encephaloneuropathy-obesity-valvulopathy 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014317.5(PDSS1):c.609+46A>G	rs1780196	0.88595
NM_014317.5(PDSS1):c.130-46T>C	rs1780186	0.65133
NM_014317.5(PDSS1):c.130-23del	rs71403882	0.61230
NM_014317.5(PDSS1):c.336+22G>A	rs1748356	0.52543
NM_014317.5(PDSS1):c.467+42G>C	rs2368183	0.27040
NM_014317.5(PDSS1):c.*76C>T	rs12776877	0.13025
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val)	rs17855857	0.02444
NM_014317.5(PDSS1):c.*157T>G	rs1046187	0.02265
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)	rs77826284	0.00516
NM_014317.5(PDSS1):c.162+13A>G	rs12571799	0.00410
NM_014317.5(PDSS1):c.163-5del	rs34296355

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.