ClinVar Miner

List of variants in gene LRAT reported as uncertain significance for Leber congenital amaurosis

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_004744.5(LRAT):c.*1155T>A rs72683214 0.00883
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_004744.5(LRAT):c.-15C>T rs113018020 0.00590
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.*3263C>T rs28469192 0.00212
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_004744.5(LRAT):c.*3654T>C rs191784588 0.00176
NM_004744.5(LRAT):c.*3712G>C rs144961748 0.00172
NM_004744.5(LRAT):c.*3714T>C rs183640442 0.00155
NM_004744.5(LRAT):c.*3819T>C rs191600425 0.00153
NM_004744.5(LRAT):c.611C>T (p.Ala204Val) rs144754979 0.00089
NM_004744.5(LRAT):c.*2347C>T rs528985596 0.00084
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_004744.5(LRAT):c.*3980T>C rs191125324 0.00048
NM_004744.5(LRAT):c.*640T>C rs574458445 0.00043
NM_004744.5(LRAT):c.*561A>G rs1046022135 0.00027
NM_004744.5(LRAT):c.*1418C>G rs148321604 0.00024
NM_004744.5(LRAT):c.*517G>A rs535367516 0.00024
NM_004744.5(LRAT):c.*3978C>T rs886059180 0.00022
NM_004744.5(LRAT):c.*2854A>G rs745679958 0.00018
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_004744.5(LRAT):c.*1390G>A rs769920153 0.00012
NM_004744.5(LRAT):c.*2322C>T rs1046783706 0.00011
NM_004744.5(LRAT):c.*3163C>T rs768550356 0.00011
NM_004744.5(LRAT):c.*1281C>A rs572110901 0.00010
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.*2458C>T rs538201546 0.00009
NM_004744.5(LRAT):c.*632T>C rs886059166 0.00009
NM_004744.5(LRAT):c.*1120C>T rs745651761 0.00007
NM_004744.5(LRAT):c.*81T>C rs763149722 0.00007
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) rs141705269 0.00007
NM_004744.5(LRAT):c.*106T>C rs189439579 0.00006
NM_004744.5(LRAT):c.*1585T>G rs886059168 0.00006
NM_004744.5(LRAT):c.*2417G>A rs569981218 0.00004
NM_004744.5(LRAT):c.*3081A>C rs779703148 0.00004
NM_004744.5(LRAT):c.-84C>T rs886059160 0.00004
NM_004744.5(LRAT):c.*2190C>T rs886059169 0.00003
NM_004744.5(LRAT):c.*2453C>A rs886059171 0.00003
NM_004744.5(LRAT):c.476A>G (p.Asn159Ser) rs202066076 0.00002
NM_004744.5(LRAT):c.*3509C>A rs1243976906 0.00001
NM_004744.5(LRAT):c.*624T>C rs1732952951 0.00001
NM_004744.5(LRAT):c.*671A>G rs886059167 0.00001
NM_004744.5(LRAT):c.*826C>T rs778612442 0.00001
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) rs747900628 0.00001
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) rs920685564 0.00001
NM_004744.5(LRAT):c.519G>T (p.Pro173=) rs375365480 0.00001
NM_004744.5(LRAT):c.*138C>A rs1241475769
NM_004744.5(LRAT):c.*1936G>C rs1011111572
NM_004744.5(LRAT):c.*2064T>G rs959693267
NM_004744.5(LRAT):c.*2222G>C rs940106140
NM_004744.5(LRAT):c.*2310A>T rs368622887
NM_004744.5(LRAT):c.*2396C>G rs867110135
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.*2629G>A rs112759047
NM_004744.5(LRAT):c.*2855A>G rs1733006832
NM_004744.5(LRAT):c.*2968C>G rs886059175
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*3072G>T rs944531041
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3213C>T rs1733014698
NM_004744.5(LRAT):c.*329T>C rs886059164
NM_004744.5(LRAT):c.*336C>T rs963950353
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.*3770A>G rs886059178
NM_004744.5(LRAT):c.*3917A>G rs1052203357
NM_004744.5(LRAT):c.*3958G>A rs886059179
NM_004744.5(LRAT):c.*495C>T rs755614971
NM_004744.5(LRAT):c.*828G>C rs1732961028
NM_004744.5(LRAT):c.*98C>A rs529360609
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_004744.5(LRAT):c.364A>G (p.Ile122Val) rs907805484
NM_004744.5(LRAT):c.382G>C (p.Asp128His) rs1732845050

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