ClinVar Miner

List of variants in gene AKT1 studied for Proteus syndrome

Included ClinVar conditions (2):

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_001382430.1(AKT1):c.1032C>T (p.Cys344=)	rs56289559	0.00063
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	rs121434592
NM_001382430.1(AKT1):c.49_50delinsAG (p.Glu17Arg)	rs1595251483

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