ClinVar Miner

List of variants in gene PIK3CA reported as pathogenic by OMIM

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794 0.00001
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.4(PIK3CA):c.248T>C (p.Phe83Ser) rs1560137208
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792

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