ClinVar Miner

List of variants in gene MARS1 studied for Charcot-Marie-Tooth disease, axonal, type 2u

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_004990.4(MARS1):c.2426del (p.Gln809fs)
NM_004990.4(MARS1):c.2447G>A (p.Arg816His)
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn) rs1594838677

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.