ClinVar Miner

List of variants in gene PIK3CA reported as pathogenic for not provided

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1034A>G (p.Asn345Ser)
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly) rs1553821144
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1342_1354del (p.Pro447_Val448insTer) rs2108400575
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser) rs1724674149
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
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.1635_1636delinsTA (p.Glu545_Gln546delinsAspLys) rs2108408372
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1798G>A (p.Glu600Lys)
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
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.2646dup (p.Asp883fs) rs1553825266
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) rs1724342112
NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln) rs1064793663
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys) rs2108425281
NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile) rs2108429272
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser) rs1064793838
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.3143A>G (p.His1048Arg) rs1553826184
NM_006218.4(PIK3CA):c.3145G>A (p.Gly1049Ser) rs121913277
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val) rs1253171657
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790

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