ClinVar Miner

List of variants in gene PIK3CA studied for central nervous system malformation

Included ClinVar conditions (163):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351 0.00032
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676 0.00004
NM_006218.4(PIK3CA):c.1059+12T>A rs200627037 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
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.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser) rs1724674149
NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)
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.1616C>G (p.Pro539Arg) rs121913285
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1631C>A (p.Thr544Asn) rs2108408335
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) rs1724332515
NM_006218.4(PIK3CA):c.2137A>G (p.Ile713Val)
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
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.2716G>C (p.Val906Leu) rs2108424153
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val) rs1242945375
NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
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.3145G>A (p.Gly1049Ser) rs121913277
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn) rs863225460
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.93A>G (p.Ile31Met) rs2108385317

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