List of variants reported as benign for Beta-D-mannosidosis 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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005908.4(MANBA):c.*384C>T	rs4019	0.55353
NM_005908.4(MANBA):c.*401G>A	rs4013	0.55336
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)	rs2272697	0.55313
NM_005908.4(MANBA):c.*124T>C	rs3194585	0.55297
NM_005908.4(MANBA):c.*161C>T	rs1054029	0.55296
NM_005908.4(MANBA):c.*505G>A	rs1054037	0.54146
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)	rs227368	0.39095
NM_005908.4(MANBA):c.315G>A (p.Thr105=)	rs6857760	0.10011
NM_005908.4(MANBA):c.*356G>A	rs7672268	0.04355
NM_005908.4(MANBA):c.831A>G (p.Leu277=)	rs17033168	0.04331
NM_005908.4(MANBA):c.*317A>G	rs78514870	0.03053
NM_005908.4(MANBA):c.1482G>T (p.Leu494=)	rs74718667	0.02371
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)	rs75826658	0.01517
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg)	rs116340501	0.01154
NM_005908.4(MANBA):c.178-8A>G	rs113584126	0.01028
NM_005908.4(MANBA):c.849+13A>C	rs76954465	0.00011
NM_005908.4(MANBA):c.1705-13C>A	rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)	rs2866413

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.