ClinVar Miner

List of variants in gene PIK3CA reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.2295-57C>G rs2699889 0.67874
NM_006218.4(PIK3CA):c.1059+62C>A rs2699895 0.58379
NM_006218.4(PIK3CA):c.1145+54A>G rs3729679 0.58285
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_006218.4(PIK3CA):c.352+40A>G rs3729674 0.26066
NM_006218.4(PIK3CA):c.1060-69G>T rs3729676 0.26059
NM_006218.4(PIK3CA):c.1540-199T>C rs1568205 0.26034
NM_006218.4(PIK3CA):c.2016-27A>T rs6443625 0.26014
NM_006218.4(PIK3CA):c.1146-234T>C rs55685804 0.24793
NM_006218.4(PIK3CA):c.2016-220A>T rs6777203 0.24767
NM_006218.4(PIK3CA):c.2295-220del rs761598530 0.24462
NM_006218.4(PIK3CA):c.2295-218_2295-216del rs201266676 0.24435
NM_006218.4(PIK3CA):c.814-309C>T rs2677763 0.18731
NM_006218.4(PIK3CA):c.2495+144G>T rs9823044 0.18609
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006218.4(PIK3CA):c.1059+170C>A rs9833206 0.10573
NM_006218.4(PIK3CA):c.1146-272C>A rs56143971 0.08733
NM_006218.4(PIK3CA):c.1664+105T>G rs17849071 0.07935
NM_006218.4(PIK3CA):c.2187+306A>T rs7624090 0.07930
NM_006218.4(PIK3CA):c.1146-38T>C rs3729682 0.07929
NM_006218.4(PIK3CA):c.2015+37A>G rs11918324 0.07925
NM_006218.4(PIK3CA):c.2666+95A>C rs3729692 0.05291
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_006218.4(PIK3CA):c.2495+73C>G rs1356413 0.05013
NM_006218.4(PIK3CA):c.2667-108G>C rs41265402 0.04980
NM_006218.4(PIK3CA):c.1540-55C>T rs45455192 0.04697
NM_006218.4(PIK3CA):c.814-304G>A rs115042445 0.04296
NM_006218.4(PIK3CA):c.2936+32A>G rs3729693 0.04142
NM_006218.4(PIK3CA):c.-76-203G>T rs73882964 0.04128
NM_006218.4(PIK3CA):c.2187+73T>C rs3729689 0.03490
NM_006218.4(PIK3CA):c.1251+157C>T rs3729681 0.03112
NM_006218.4(PIK3CA):c.1060-18C>A rs3729677 0.02605
NM_006218.4(PIK3CA):c.2666+59C>T rs17849077 0.01420
NM_006218.4(PIK3CA):c.2416+213A>C rs72561482 0.01384
NM_006218.4(PIK3CA):c.1059+261T>C rs140501787 0.01362
NM_006218.4(PIK3CA):c.1664+91C>T rs114587137 0.01240
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_006218.4(PIK3CA):c.353-224C>T rs9811268 0.01152
NM_006218.4(PIK3CA):c.2937-216T>C rs72561479 0.00805
NM_006218.4(PIK3CA):c.813+119G>A rs141372015 0.00785
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006218.4(PIK3CA):c.-76-19T>C rs11709323 0.00739
NM_006218.4(PIK3CA):c.1404+42_1404+44del rs575940765 0.00559
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_006218.4(PIK3CA):c.2937-155A>G rs138651462 0.00344
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.-76-34C>G rs116535529 0.00300
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_006218.4(PIK3CA):c.2417-36G>A rs188974972 0.00228
NM_006218.4(PIK3CA):c.1665-44C>A rs141589697 0.00167
NM_006218.4(PIK3CA):c.1746+42T>C rs200409955 0.00133
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006218.4(PIK3CA):c.2188-21C>T rs141065099 0.00069
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006218.4(PIK3CA):c.352+11A>G rs201605394 0.00033
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351 0.00032
NM_006218.4(PIK3CA):c.814-15C>G rs201682277 0.00019
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006218.4(PIK3CA):c.1912-28C>T rs200142515 0.00007
NM_006218.4(PIK3CA):c.*10del rs762836471 0.00004
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 0.00004
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=) rs1060503813 0.00003
NM_006218.4(PIK3CA):c.2980C>T (p.His994Tyr) rs1160295534 0.00003
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762 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.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.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.1153G>A (p.Glu385Lys)
NM_006218.4(PIK3CA):c.11G>C (p.Arg4Pro) rs749956691
NM_006218.4(PIK3CA):c.1201C>T (p.Arg401Ter)
NM_006218.4(PIK3CA):c.1252-114del rs67871207
NM_006218.4(PIK3CA):c.1259_1261dup (p.Cys420_Pro421insArg) rs1057518041
NM_006218.4(PIK3CA):c.1321del (p.Met441fs) rs2108400442
NM_006218.4(PIK3CA):c.1352G>T (p.Gly451Val)
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.1450G>A (p.Val484Ile) rs1004909638
NM_006218.4(PIK3CA):c.1496C>G (p.Ser499Cys) rs1724682773
NM_006218.4(PIK3CA):c.1504C>T (p.Arg502Ter) rs1724683795
NM_006218.4(PIK3CA):c.1615C>T (p.Pro539Ser) rs1724887383
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.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1798G>A (p.Glu600Lys)
NM_006218.4(PIK3CA):c.1807G>A (p.Asp603Asn) rs2108410841
NM_006218.4(PIK3CA):c.1819C>T (p.Pro607Ser) rs2108410891
NM_006218.4(PIK3CA):c.1843G>T (p.Ala615Ser) rs2108410990
NM_006218.4(PIK3CA):c.1955T>C (p.Phe652Ser) rs2108411972
NM_006218.4(PIK3CA):c.2039_2042del (p.Val680fs)
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2204T>C (p.Leu735Ser) rs1725027082
NM_006218.4(PIK3CA):c.2221C>T (p.Arg741Ter)
NM_006218.4(PIK3CA):c.2331G>C (p.Arg777Ser) rs771524333
NM_006218.4(PIK3CA):c.2416+285G>T rs73882971
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.2495+163_2495+164insGACTT rs3975515
NM_006218.4(PIK3CA):c.2543T>C (p.Ile848Thr) rs2108422608
NM_006218.4(PIK3CA):c.2618A>G (p.Asn873Ser)
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2646dup (p.Asp883fs) rs1553825266
NM_006218.4(PIK3CA):c.2666T>C (p.Ile889Thr) rs1064796841
NM_006218.4(PIK3CA):c.2716G>T (p.Val906Leu)
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.2747G>A (p.Arg916His)
NM_006218.4(PIK3CA):c.2758A>G (p.Asn920Asp) rs1064795304
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.2852G>A (p.Arg951His) rs2108425041
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys) rs2108425281
NM_006218.4(PIK3CA):c.2924G>A (p.Arg975Lys)
NM_006218.4(PIK3CA):c.2936+221A>T rs3729694
NM_006218.4(PIK3CA):c.29T>C (p.Leu10Pro)
NM_006218.4(PIK3CA):c.3010A>G (p.Met1004Val)
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.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.3140A>G (p.His1047Arg) 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.316G>A (p.Gly106Ser)
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val) rs1253171657
NM_006218.4(PIK3CA):c.352+125_352+126insTAT rs10663584
NM_006218.4(PIK3CA):c.361A>C (p.Ile121Leu)
NM_006218.4(PIK3CA):c.485G>A (p.Arg162Lys) rs1553820511
NM_006218.4(PIK3CA):c.562+88dup rs762831149
NM_006218.4(PIK3CA):c.813+79_813+85dup rs373901635
NM_006218.4(PIK3CA):c.813+80_813+85dup rs373901635
NM_006218.4(PIK3CA):c.813+81_813+85dup rs373901635
NM_006218.4(PIK3CA):c.813+85dup rs373901635
NM_006218.4(PIK3CA):c.814-174G>A rs7623154
NM_006218.4(PIK3CA):c.814-277dup rs199690089
NM_006218.4(PIK3CA):c.814-77_814-76insAATA rs17550640

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.