List of variants reported as likely pathogenic for Morquio syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	rs144067930	0.00017
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	rs145798311	0.00004
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	rs371429653	0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro)	rs760892654	0.00002
NM_000512.5(GALNS):c.281G>A (p.Arg94His)	rs727503946	0.00001
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)	rs191519947
NM_000512.5(GALNS):c.489del (p.Asn164fs)	rs1328983959
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)	rs61742258
NM_000512.5(GALNS):c.899-2A>G	rs1165218506
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)	rs2142999207

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.