List of variants in gene GBF1 reported as pathogenic for hereditary peripheral neuropathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)	rs1299997613	0.00003
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)	rs2060050669
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)	rs2060161763
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)	rs2060541274

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