ClinVar Miner

List of variants in gene AKT3 reported as likely benign for Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)	rs760280114	0.00008
NM_005465.7(AKT3):c.504G>A (p.Lys168=)	rs751924257	0.00001

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