List of variants reported as benign for Charcot-Marie-Tooth disease type 1F

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006158.4(NEFL):c.-176C>A	rs2979688	0.53692
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	rs543609297	0.00777
NM_006158.5(NEFL):c.*1344G>A	rs79034217	0.00743
NM_006158.5(NEFL):c.*101A>G	rs34505194	0.00356
NM_006158.5(NEFL):c.*244A>G	rs78869168	0.00290
NM_006158.5(NEFL):c.*82T>A	rs148654058	0.00222
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	rs57153321	0.00081
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	rs62636522	0.00065
NM_006158.5(NEFL):c.*1293A>G	rs573350915	0.00043
NM_006158.5(NEFL):c.*878A>G	rs189452316	0.00034
NM_006158.5(NEFL):c.*1806T>C	rs192937928	0.00021
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	rs58907919	0.00013
NM_006158.4(NEFL):c.-183C>G	rs62503766
NM_006158.5(NEFL):c.*486T>G	rs562682645

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.