List of variants studied for Charcot-Marie-Tooth disease type 2 by Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)	rs764297134	0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)	rs773371488	0.00001
NM_030973.4(MED25):c.949G>T (p.Gly317Cys)	rs1280659782	0.00001
NM_001376.5(DYNC1H1):c.6743A>G (p.Glu2248Gly)	rs2048263970
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)	rs2048518278
NM_018972.4(GDAP1):c.140del (p.Lys47fs)	rs1808858148

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.