ClinVar Miner

List of variants in gene LITAF reported as uncertain significance for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*149C>A rs571908546
NM_001136473.1(LITAF):c.*17-48C>A rs752383184
NM_001136473.1(LITAF):c.*173C>T rs768639690
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.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>C rs754821950
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser) rs0
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.269G>A (p.Arg90His) rs0
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly) rs0
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) rs201352515

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.