List of variants in gene GLB1 reported by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	rs564428355	0.00008
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359	0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	rs72555393	0.00001
NM_000404.4(GLB1):c.1022G>T (p.Gly341Val)
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	rs2471279230
NM_000404.4(GLB1):c.1077del (p.Val360fs)	rs727503952
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)	rs2471255671
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)	rs1172435886
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.515_516del (p.Leu172fs)
NM_000404.4(GLB1):c.713C>T (p.Thr238Ile)	rs2471397513
NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)	rs2471380584

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