List of variants in gene PIK3CA reported as pathogenic for Cowden syndrome

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	rs1057519942
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	rs1064793732
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	rs397514565
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	rs121913272
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del)	rs587776933
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	rs121913275
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	rs867262025
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	rs121913287
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)	rs121913288
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	rs121913283
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser)	rs1064793838
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	rs587777790

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