ClinVar Miner

List of variants in gene LITAF reported as pathogenic for Charcot-Marie-Tooth disease, type 1C

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) rs104894522

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.