List of variants in gene MME studied for Charcot-Marie-Tooth disease, axonal, type 2T

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: 18

Download table as spreadsheet

HGVS	dbSNP
NM_000902.4(MME):c.1265C>A (p.Ala422Asp)	rs777476150
NM_000902.4(MME):c.1272del (p.Arg425fs)	rs1060499935
NM_000902.4(MME):c.1564C>T (p.Gln522Ter)	rs1553765316
NM_000902.4(MME):c.1861T>C (p.Cys621Arg)	rs879253752
NM_000902.4(MME):c.1904G>A (p.Gly635Asp)	rs151302020
NM_000902.4(MME):c.439+2T>A	rs1057519024
NM_000902.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_000902.4(MME):c.654+1G>A	rs1057519023
NM_000902.4(MME):c.655-2A>G	rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter)	rs879253751
NM_000902.4(MME):c.71G>A (p.Trp24Ter)	rs886039755
NM_007287.3(MME):c.1666C>T (p.Pro556Ser)	rs1559961997
NM_007287.3(MME):c.1972G>A (p.Ala658Thr)	rs1559963660
NM_007289.4(MME):c.1574A>C (p.Lys525Thr)
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
NM_007289.4(MME):c.2072C>T (p.Ala691Val)	rs1414684441
NM_007289.4(MME):c.307C>T (p.Arg103Cys)
NM_007289.4(MME):c.531del (p.Lys177fs)	rs1190163112

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.