List of variants in gene GLB1 reported as pathogenic by Counsyl

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: 10

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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.176G>A (p.Arg59His)	rs72555392	0.00004
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	rs72555391	0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051	0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	rs72555372	0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359	0.00001
NM_000404.4(GLB1):c.245+1G>A	rs778423653	0.00001
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	rs72555390
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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