ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_007287.2(MME):c.1666C>T (p.Pro556Ser)
NM_007287.2(MME):c.1972G>A (p.Ala658Thr)
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)
NM_024577.3(SH3TC2):c.2640delC (p.Asn881Ilefs)
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462

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.