ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 14 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_004744.5(LRAT):c.*817A>G rs78274322 0.09886
NM_004744.5(LRAT):c.*1867C>T rs78441257 0.09872
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.74T>A (p.Phe25Tyr) rs75368761 0.00748

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