ClinVar Miner

List of variants reported as pathogenic for AKT3-related overgrowth spectrum by OMIM

Included ClinVar conditions (1):

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	rs587776935
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	rs397514606
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)	rs397514605

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