List of variants in gene PIK3CA reported as pathogenic for Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	rs867262025
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279

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