ClinVar Miner

List of variants in gene PIK3CA reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1501T>A (p.Ser501Thr) rs751557352 0.00003
NM_006218.4(PIK3CA):c.1304C>T (p.Thr435Ile) rs745847400 0.00001
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773 0.00001
NM_006218.4(PIK3CA):c.1749G>A (p.Met583Ile) rs1302992156 0.00001
NM_006218.4(PIK3CA):c.1774C>T (p.Pro592Ser) rs1724920020 0.00001
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.635A>G (p.Asn212Ser) rs751662352 0.00001
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr) rs1724405220 0.00001
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr) rs1297000505 0.00001
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762 0.00001
NM_006218.4(PIK3CA):c.995G>A (p.Ser332Asn) rs1262394031 0.00001
NM_006218.4(PIK3CA):c.1018T>C (p.Cys340Arg)
NM_006218.4(PIK3CA):c.1043T>C (p.Ile348Thr)
NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly) rs1553821144
NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys) rs2108394261
NM_006218.4(PIK3CA):c.1079T>A (p.Ile360Asn)
NM_006218.4(PIK3CA):c.1080C>G (p.Ile360Met)
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys) rs1724506239
NM_006218.4(PIK3CA):c.1103G>A (p.Cys368Tyr)
NM_006218.4(PIK3CA):c.1117A>G (p.Thr373Ala)
NM_006218.4(PIK3CA):c.1118C>A (p.Thr373Asn)
NM_006218.4(PIK3CA):c.1171A>G (p.Ile391Val)
NM_006218.4(PIK3CA):c.1190C>G (p.Pro397Arg)
NM_006218.4(PIK3CA):c.1193G>C (p.Arg398Pro)
NM_006218.4(PIK3CA):c.1202G>A (p.Arg401Gln)
NM_006218.4(PIK3CA):c.1267G>A (p.Ala423Thr)
NM_006218.4(PIK3CA):c.1340C>T (p.Pro447Leu)
NM_006218.4(PIK3CA):c.1343T>C (p.Val448Ala)
NM_006218.4(PIK3CA):c.1349A>C (p.His450Pro)
NM_006218.4(PIK3CA):c.1372C>G (p.Pro458Ala)
NM_006218.4(PIK3CA):c.1408A>T (p.Thr470Ser)
NM_006218.4(PIK3CA):c.1409C>T (p.Thr470Ile)
NM_006218.4(PIK3CA):c.1422G>T (p.Glu474Asp)
NM_006218.4(PIK3CA):c.1425G>T (p.Leu475Phe)
NM_006218.4(PIK3CA):c.1433A>T (p.Asp478Val)
NM_006218.4(PIK3CA):c.1445G>C (p.Ser482Thr)
NM_006218.4(PIK3CA):c.1447G>A (p.Val483Met)
NM_006218.4(PIK3CA):c.1451T>C (p.Val484Ala)
NM_006218.4(PIK3CA):c.1454A>C (p.Lys485Thr)
NM_006218.4(PIK3CA):c.1466T>C (p.Met489Thr)
NM_006218.4(PIK3CA):c.1482G>C (p.Glu494Asp)
NM_006218.4(PIK3CA):c.1495T>A (p.Ser499Thr)
NM_006218.4(PIK3CA):c.1498G>C (p.Val500Leu)
NM_006218.4(PIK3CA):c.1498G>T (p.Val500Leu)
NM_006218.4(PIK3CA):c.1504C>G (p.Arg502Gly)
NM_006218.4(PIK3CA):c.1523A>G (p.Tyr508Cys)
NM_006218.4(PIK3CA):c.1528C>T (p.His510Tyr)
NM_006218.4(PIK3CA):c.152A>G (p.Lys51Arg)
NM_006218.4(PIK3CA):c.1530C>A (p.His510Gln)
NM_006218.4(PIK3CA):c.1535G>C (p.Gly512Ala) rs200031978
NM_006218.4(PIK3CA):c.1569A>C (p.Leu523Phe)
NM_006218.4(PIK3CA):c.1587A>C (p.Glu529Asp)
NM_006218.4(PIK3CA):c.1598C>G (p.Ala533Gly) rs1724886930
NM_006218.4(PIK3CA):c.1600A>G (p.Ile534Val)
NM_006218.4(PIK3CA):c.1606A>G (p.Thr536Ala)
NM_006218.4(PIK3CA):c.1662C>A (p.His554Gln)
NM_006218.4(PIK3CA):c.1681A>G (p.Ile561Val)
NM_006218.4(PIK3CA):c.1689A>C (p.Glu563Asp)
NM_006218.4(PIK3CA):c.1696C>T (p.Pro566Ser)
NM_006218.4(PIK3CA):c.1738G>A (p.Val580Ile)
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1775C>T (p.Pro592Leu)
NM_006218.4(PIK3CA):c.1777A>G (p.Ile593Val)
NM_006218.4(PIK3CA):c.1793C>A (p.Ala598Asp)
NM_006218.4(PIK3CA):c.179A>C (p.Gln60Pro)
NM_006218.4(PIK3CA):c.181C>T (p.Leu61Phe)
NM_006218.4(PIK3CA):c.1829T>C (p.Met610Thr)
NM_006218.4(PIK3CA):c.1831G>A (p.Val611Ile)
NM_006218.4(PIK3CA):c.189A>C (p.Gln63His) rs772678298
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.195A>T (p.Glu65Asp)
NM_006218.4(PIK3CA):c.1960C>G (p.Leu654Val)
NM_006218.4(PIK3CA):c.1970C>T (p.Ala657Val)
NM_006218.4(PIK3CA):c.1981C>G (p.Gln661Glu)
NM_006218.4(PIK3CA):c.2030A>G (p.Asn677Ser)
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys) rs1397152286
NM_006218.4(PIK3CA):c.2081C>T (p.Ala694Val)
NM_006218.4(PIK3CA):c.2101C>T (p.His701Tyr)
NM_006218.4(PIK3CA):c.2131A>G (p.Lys711Glu)
NM_006218.4(PIK3CA):c.2159A>G (p.Lys720Arg)
NM_006218.4(PIK3CA):c.2183A>G (p.Gln728Arg) rs1724956832
NM_006218.4(PIK3CA):c.2194A>G (p.Met732Val)
NM_006218.4(PIK3CA):c.2207T>C (p.Val736Ala)
NM_006218.4(PIK3CA):c.2207T>G (p.Val736Gly)
NM_006218.4(PIK3CA):c.2215A>G (p.Met739Val)
NM_006218.4(PIK3CA):c.2222G>A (p.Arg741Gln)
NM_006218.4(PIK3CA):c.2239G>A (p.Ala747Thr)
NM_006218.4(PIK3CA):c.2251T>C (p.Phe751Leu)
NM_006218.4(PIK3CA):c.2255T>C (p.Leu752Pro)
NM_006218.4(PIK3CA):c.2260C>A (p.Pro754Thr)
NM_006218.4(PIK3CA):c.2266A>T (p.Asn756Tyr)
NM_006218.4(PIK3CA):c.2269C>A (p.Pro757Thr)
NM_006218.4(PIK3CA):c.2269C>T (p.Pro757Ser)
NM_006218.4(PIK3CA):c.2272G>A (p.Ala758Thr)
NM_006218.4(PIK3CA):c.2288A>G (p.Asn763Ser)
NM_006218.4(PIK3CA):c.2289C>G (p.Asn763Lys)
NM_006218.4(PIK3CA):c.2296C>A (p.Leu766Ile)
NM_006218.4(PIK3CA):c.2356C>G (p.Pro786Ala)
NM_006218.4(PIK3CA):c.2368T>C (p.Ser790Pro) rs2108418067
NM_006218.4(PIK3CA):c.2457T>G (p.Ile819Met)
NM_006218.4(PIK3CA):c.2475A>C (p.Gln825His)
NM_006218.4(PIK3CA):c.2476A>G (p.Asn826Asp)
NM_006218.4(PIK3CA):c.2485C>T (p.Leu829Phe)
NM_006218.4(PIK3CA):c.2539C>G (p.Leu847Val)
NM_006218.4(PIK3CA):c.2563C>T (p.His855Tyr)
NM_006218.4(PIK3CA):c.2577A>C (p.Gln859His)
NM_006218.4(PIK3CA):c.2603G>T (p.Gly868Val)
NM_006218.4(PIK3CA):c.2622C>G (p.Ser874Arg)
NM_006218.4(PIK3CA):c.2627C>T (p.Thr876Ile)
NM_006218.4(PIK3CA):c.2640G>T (p.Trp880Cys)
NM_006218.4(PIK3CA):c.2645A>G (p.Lys882Arg)
NM_006218.4(PIK3CA):c.2647G>A (p.Asp883Asn)
NM_006218.4(PIK3CA):c.2655C>G (p.Asn885Lys)
NM_006218.4(PIK3CA):c.2657A>G (p.Lys886Arg)
NM_006218.4(PIK3CA):c.2678C>T (p.Ala893Val)
NM_006218.4(PIK3CA):c.2685C>G (p.Asp895Glu)
NM_006218.4(PIK3CA):c.268T>C (p.Cys90Arg)
NM_006218.4(PIK3CA):c.2696G>A (p.Arg899His) rs1725176691
NM_006218.4(PIK3CA):c.2696G>T (p.Arg899Leu)
NM_006218.4(PIK3CA):c.2836G>C (p.Gly946Arg)
NM_006218.4(PIK3CA):c.2903C>G (p.Ala968Gly)
NM_006218.4(PIK3CA):c.2911T>G (p.Cys971Gly)
NM_006218.4(PIK3CA):c.2953T>C (p.Tyr985His) rs1725278183
NM_006218.4(PIK3CA):c.2987A>T (p.Asn996Ile)
NM_006218.4(PIK3CA):c.3076C>G (p.Leu1026Val)
NM_006218.4(PIK3CA):c.3106T>A (p.Leu1036Met)
NM_006218.4(PIK3CA):c.3200T>G (p.Leu1067Trp)
NM_006218.4(PIK3CA):c.325G>A (p.Glu109Lys)
NM_006218.4(PIK3CA):c.350T>C (p.Ile117Thr)
NM_006218.4(PIK3CA):c.364G>A (p.Gly122Ser)
NM_006218.4(PIK3CA):c.367A>G (p.Met123Val) rs1724359925
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.389T>C (p.Met130Thr) rs1724360472
NM_006218.4(PIK3CA):c.400C>G (p.Pro134Ala)
NM_006218.4(PIK3CA):c.425A>G (p.Asn142Ser)
NM_006218.4(PIK3CA):c.42C>G (p.His14Gln)
NM_006218.4(PIK3CA):c.439T>G (p.Cys147Gly)
NM_006218.4(PIK3CA):c.44T>G (p.Leu15Trp)
NM_006218.4(PIK3CA):c.451G>C (p.Val151Leu)
NM_006218.4(PIK3CA):c.457C>A (p.Leu153Ile)
NM_006218.4(PIK3CA):c.457C>T (p.Leu153Phe)
NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)
NM_006218.4(PIK3CA):c.4C>T (p.Pro2Ser)
NM_006218.4(PIK3CA):c.500A>G (p.Tyr167Cys) rs761264437
NM_006218.4(PIK3CA):c.52C>T (p.Pro18Ser)
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)
NM_006218.4(PIK3CA):c.611A>C (p.Lys204Thr) rs1724404532
NM_006218.4(PIK3CA):c.668A>G (p.Glu223Gly)
NM_006218.4(PIK3CA):c.683A>G (p.Lys228Arg)
NM_006218.4(PIK3CA):c.698T>C (p.Leu233Ser)
NM_006218.4(PIK3CA):c.722T>A (p.Leu241His)
NM_006218.4(PIK3CA):c.817A>C (p.Ile273Leu)
NM_006218.4(PIK3CA):c.821G>T (p.Arg274Ile)
NM_006218.4(PIK3CA):c.832A>G (p.Met278Val)
NM_006218.4(PIK3CA):c.835C>T (p.Leu279Phe) rs1260908401
NM_006218.4(PIK3CA):c.839G>A (p.Gly280Glu)
NM_006218.4(PIK3CA):c.857T>C (p.Met286Thr)
NM_006218.4(PIK3CA):c.862A>C (p.Met288Leu)
NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr) rs2108392669
NM_006218.4(PIK3CA):c.864G>A (p.Met288Ile)
NM_006218.4(PIK3CA):c.881A>G (p.Tyr294Cys)
NM_006218.4(PIK3CA):c.884C>G (p.Ser295Cys)
NM_006218.4(PIK3CA):c.896T>C (p.Met299Thr)
NM_006218.4(PIK3CA):c.900C>G (p.Asp300Glu)
NM_006218.4(PIK3CA):c.901T>G (p.Cys301Gly)
NM_006218.4(PIK3CA):c.910A>G (p.Met304Val) rs754602413
NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu) rs1724335079
NM_006218.4(PIK3CA):c.932T>G (p.Ile311Ser)
NM_006218.4(PIK3CA):c.950A>G (p.Tyr317Cys)
NM_006218.4(PIK3CA):c.958G>A (p.Gly320Arg)
NM_006218.4(PIK3CA):c.973A>G (p.Lys325Glu)
NM_006218.4(PIK3CA):c.985G>T (p.Val329Phe)
NM_006218.4(PIK3CA):c.98C>T (p.Thr33Ile)
NM_006218.4(PIK3CA):c.995G>C (p.Ser332Thr)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val) rs759611407

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