Variants in gene GLB1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.335A>C (p.His112Pro)	rs753965226	0.00003
NM_000404.4(GLB1):c.146G>A (p.Arg49His)	rs780523881	0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	rs572237881	0.00002
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	rs72555365	0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	rs1553606400	0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	rs780232995	0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	rs72555371	0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	rs778700089	0.00001
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	rs202237232
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	rs72555390
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	rs1553612220
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	rs773562141
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	rs1553611055

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