List of variants studied for CLOVES syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)	rs1555702147
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)	rs1724507777
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.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	rs1057519929
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	rs1057519930

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