ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_004744.5(LRAT):c.217_218del (p.Met73fs) rs1560870755
NM_004744.5(LRAT):c.400_401del (p.Lys134fs) rs761717462
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) rs104893848

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