ClinVar Miner

List of variants reported as pathogenic for complex vascular malformation with associated anomalies by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
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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