List of variants reported as pathogenic for GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis by Fulgent Genetics, Fulgent Genetics

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	rs72555366	0.00012
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	rs72555360	0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	rs376710410	0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His)	rs189115557	0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)	rs72555370	0.00003
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391	0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	rs780523881	0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051	0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)	rs781658798	0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372	0.00001
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)	rs757926581	0.00001
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	rs968221254	0.00001
NM_000404.4(GLB1):c.1480-2A>G	rs587776526	0.00001
NM_000404.4(GLB1):c.245+1G>A	rs778423653	0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	rs72555393	0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs)	rs1452318343	0.00001
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)	rs398123348
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	rs794729217
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)	rs1304277420
NM_000404.4(GLB1):c.275G>A (p.Trp92Ter)
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)	rs751033858
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	rs2125533127
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)	rs1559401428
NM_000404.4(GLB1):c.833del (p.Gly278fs)	rs2471375093
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)	rs370107958

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.