List of variants studied for Charcot-Marie-Tooth disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP
NM_000902.4(MME):c.1272del (p.Arg425fs)	rs1060499935
NM_000902.4(MME):c.1904G>A (p.Gly635Asp)	rs151302020
NM_001605.2(AARS1):c.618G>T (p.Gln206His)	rs139785247
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	rs191391414
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)	rs864309526
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)	rs28940292
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	rs765061840
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	rs371334506

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.