List of variants in gene GLB1 reported by Mendelics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)	rs201807974	0.00011
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	rs756878418	0.00002
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000404.4(GLB1):c.1264C>T (p.Leu422Phe)	rs2125470035
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	rs794729217
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	rs1553612189
NM_000404.4(GLB1):c.553-2A>T	rs2125533195
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	rs2125533127
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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