List of variants in gene PIK3CA studied for CLOVES syndrome

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)	rs1724507777
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	rs121913272
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.1633G>A (p.Glu545Lys)	rs104886003
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.3073A>G (p.Thr1025Ala)	rs397517202
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	rs1057519930
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	rs1724343994
NM_006218.4(PIK3CA):c.813+2T>C	rs2108390250

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