List of variants reported for Mucolipidosis type II by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)	rs531738916	0.00002
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)	rs769587233	0.00001
NM_024312.5(GNPTAB):c.3335+1G>A	rs34940801	0.00001
NM_024312.5(GNPTAB):c.1408+1G>T	rs1060499680
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)	rs281864996
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_024312.5(GNPTAB):c.572-2A>G	rs2547967894

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.