ClinVar Miner

List of variants in gene LRAT studied for Leber congenital amaurosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_004744.5(LRAT):c.*1338T>G rs12507608 0.09793
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_004744.5(LRAT):c.*3264G>A rs115053323 0.00575
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_004744.5(LRAT):c.*3712G>C rs144961748 0.00172
NM_004744.5(LRAT):c.*3819T>C rs191600425 0.00153
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_004744.5(LRAT):c.*640T>C rs574458445 0.00043
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_004744.5(LRAT):c.*549T>C rs886059165 0.00010
NM_004744.5(LRAT):c.*98C>T rs529360609 0.00010
NM_004744.5(LRAT):c.*1585T>G rs886059168 0.00006
NM_004744.5(LRAT):c.*2453C>A rs886059171 0.00003
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_004744.5(LRAT):c.470T>C (p.Leu157Pro)

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.