ClinVar Miner

List of variants in gene LRAT studied for Leber congenital amaurosis

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Total variants: 32
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HGVS dbSNP
NM_004744.5(LRAT):c.*1338T>G rs12507608
NM_004744.5(LRAT):c.*1585T>G rs886059168
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2453C>A rs886059171
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.*2529C>T rs185391295
NM_004744.5(LRAT):c.*2625A>G rs77071498
NM_004744.5(LRAT):c.*2670G>T rs17032000
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3264G>A rs115053323
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3618G>A rs17032002
NM_004744.5(LRAT):c.*3712G>C rs144961748
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.*3819T>C rs191600425
NM_004744.5(LRAT):c.*3T>G rs200942685
NM_004744.5(LRAT):c.*549T>C rs886059165
NM_004744.5(LRAT):c.*640T>C rs574458445
NM_004744.5(LRAT):c.*98C>T rs529360609
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.-2+7A>C rs886059161
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532

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