ClinVar Miner

List of variants in gene LRAT reported as likely benign for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.*2258_*2259insTGTTGTGCTGAGTTT rs372786858

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