ClinVar Miner

List of variants in gene PIK3CA studied for PIK3CA related overgrowth syndrome

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1037T>G (p.Val346Gly)
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.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.115G>A (p.Glu39Lys)
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del) rs2473511125
NM_006218.4(PIK3CA):c.1345_1356del (p.Pro449_Leu452del)
NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu) rs1278986760
NM_006218.4(PIK3CA):c.1348_1374del (p.His450_Pro458del)
NM_006218.4(PIK3CA):c.1353_1367del (p.Leu452_Leu456del)
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1358_1361delinsG (p.Glu453_Asp454delinsGly) rs2473511270
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1632_1633delinsAA (p.Glu545Lys) rs2473524076
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
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.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1637_1638inv (p.Gln546Pro)
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.2702G>T (p.Cys901Phe) rs2108424082
NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn) rs1724341846
NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu) rs1432181034
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.3012G>A (p.Met1004Ile) rs2108429272
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) rs2108429509
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val) rs1242945375
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.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.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu) rs200018596
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609

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