List of variants reported as likely pathogenic for CLOVES syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	rs397517199
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.263G>A (p.Arg88Gln)	rs121913287
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.813+2T>C	rs2108390250
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	rs1747645807
NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp)	rs2112277098
NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)	rs751582616

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