List of variants in gene GLB1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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.602G>A (p.Arg201His)	rs189115557	0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	rs398123351	0.00003
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391	0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	rs756878418	0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	rs572237881	0.00002
NM_000404.4(GLB1):c.1479+1G>A	rs1022476871	0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	rs794727165	0.00001
NM_000404.4(GLB1):c.397-1G>A	rs398123353	0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	rs376663785	0.00001
NM_000404.4(GLB1):c.1077del (p.Val360fs)	rs727503952
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)	rs398123348
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)	rs398123349
NM_000404.4(GLB1):c.169del (p.Tyr57fs)	rs794727249
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	rs398123350
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.457+2T>C	rs398123354

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.