List of variants in gene PIK3CA 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)	rs2230461	0.10052
NM_006218.4(PIK3CA):c.2015+9A>G	rs200768351	0.00032
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)	rs181194055	0.00016
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)	rs201402676	0.00004
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	rs772110575
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.1631C>A (p.Thr544Asn)	rs2108408335
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
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	rs1724343994
NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met)	rs2108385317

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