List of variants in gene GBF1 studied for hereditary peripheral neuropathy

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)	rs1299997613	0.00003
NM_001377137.1(GBF1):c.1421A>G (p.Tyr474Cys)
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs)	rs2060017974
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)	rs2060050669
NM_001377137.1(GBF1):c.3499G>A (p.Glu1167Lys)
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)	rs2060161763
NM_001377137.1(GBF1):c.4278T>A (p.Ser1426Arg)	rs747516364
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)	rs2060541274
NM_001377137.1(GBF1):c.4494C>T (p.Asp1498=)
NM_001377137.1(GBF1):c.5294G>C (p.Gly1765Ala)	rs2135389366
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val)	rs770517190
NM_001377137.1(GBF1):c.556G>C (p.Val186Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.