ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Molecular Genetics, Royal Melbourne Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001939.3(DRP2):c.1454+5G>A rs138775194 0.01247
NM_002109.6(HARS1):c.1156G>A (p.Val386Met) rs766493535 0.00001
NM_007289.4(MME):c.1948G>A (p.Ala650Thr) rs778011002 0.00001
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) rs2152160177
NM_021629.4(GNB4):c.232A>C (p.Lys78Gln)

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.