ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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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
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	rs397514606

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