List of variants studied for Charcot-Marie-Tooth disease type 2 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe)	rs748589511	0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_000701.8(ATP1A1):c.490A>T (p.Met164Leu)
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe)	rs1555938741
NM_001365951.3(KIF1B):c.197G>A (p.Cys66Tyr)
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	rs121909112
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)	rs756985703
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	rs1131691657
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	rs312262737
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	rs312262709

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.