ClinVar Miner

List of variants in gene PIK3CD reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130 0.00021
NM_005026.5(PIK3CD):c.142-3C>T rs201635199 0.00019
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr) rs557471275 0.00017
NM_005026.5(PIK3CD):c.780+3G>A rs370943912 0.00016
NM_005026.5(PIK3CD):c.58G>A (p.Val20Ile) rs143116020 0.00014
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223 0.00012
NM_005026.5(PIK3CD):c.3029A>C (p.Glu1010Ala) rs142050444 0.00012
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys) rs765729544 0.00011
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu) rs200369205 0.00009
NM_005026.5(PIK3CD):c.692C>T (p.Pro231Leu) rs369430343 0.00008
NM_005026.5(PIK3CD):c.1501G>A (p.Val501Met) rs999028906 0.00007
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_005026.5(PIK3CD):c.455C>T (p.Ala152Val) rs755788138 0.00006
NM_005026.5(PIK3CD):c.17A>G (p.Asp6Gly) rs749032083 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn) rs547875116 0.00005
NM_005026.5(PIK3CD):c.2461C>T (p.Arg821Cys) rs140820694 0.00005
NM_005026.5(PIK3CD):c.1534C>T (p.Arg512Trp) rs765797019 0.00004
NM_005026.5(PIK3CD):c.1802G>A (p.Arg601Gln) rs138090835 0.00004
NM_005026.5(PIK3CD):c.1892A>G (p.Lys631Arg) rs769421641 0.00004
NM_005026.5(PIK3CD):c.1969G>A (p.Val657Met) rs756589761 0.00004
NM_005026.5(PIK3CD):c.2347+6G>A rs368607726 0.00004
NM_005026.5(PIK3CD):c.3015G>T (p.Gly1005=) rs776778083 0.00004
NM_005026.5(PIK3CD):c.634G>A (p.Val212Met) rs781191290 0.00004
NM_005026.5(PIK3CD):c.899G>A (p.Arg300His) rs780386111 0.00004
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_005026.5(PIK3CD):c.1607A>G (p.His536Arg) rs1198694875 0.00003
NM_005026.5(PIK3CD):c.1965G>A (p.Met655Ile) rs1211872659 0.00003
NM_005026.5(PIK3CD):c.1973C>T (p.Pro658Leu) rs780565270 0.00003
NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu) rs765031777 0.00003
NM_005026.5(PIK3CD):c.373C>A (p.Leu125Ile) rs1410662789 0.00003
NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu) rs148638384 0.00003
NM_005026.5(PIK3CD):c.538C>A (p.Pro180Thr) rs767838052 0.00003
NM_005026.5(PIK3CD):c.1496A>C (p.Glu499Ala) rs922490667 0.00002
NM_005026.5(PIK3CD):c.1642C>T (p.Arg548Trp) rs780269932 0.00002
NM_005026.5(PIK3CD):c.2055+4A>G rs761254166 0.00002
NM_005026.5(PIK3CD):c.2168C>T (p.Ala723Val) rs765640030 0.00002
NM_005026.5(PIK3CD):c.2173C>G (p.Leu725Val) rs143471703 0.00002
NM_005026.5(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302 0.00002
NM_005026.5(PIK3CD):c.2489G>A (p.Arg830His) rs756497515 0.00002
NM_005026.5(PIK3CD):c.557C>T (p.Pro186Leu) rs779715026 0.00002
NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala) rs770275584 0.00002
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00002
NM_005026.5(PIK3CD):c.141+3A>G rs1465930805 0.00001
NM_005026.5(PIK3CD):c.1483G>A (p.Gly495Arg) rs1342430054 0.00001
NM_005026.5(PIK3CD):c.1487G>A (p.Arg496Gln) rs761958757 0.00001
NM_005026.5(PIK3CD):c.1495G>A (p.Glu499Lys) rs767714303 0.00001
NM_005026.5(PIK3CD):c.155G>A (p.Arg52His) rs772851443 0.00001
NM_005026.5(PIK3CD):c.1587C>A (p.Asp529Glu) rs1332713912 0.00001
NM_005026.5(PIK3CD):c.1709C>T (p.Ser570Phe) rs1302155596 0.00001
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser) rs1570385564 0.00001
NM_005026.5(PIK3CD):c.1765G>T (p.Asp589Tyr) rs371700599 0.00001
NM_005026.5(PIK3CD):c.1774G>A (p.Val592Ile) rs893249484 0.00001
NM_005026.5(PIK3CD):c.1811C>T (p.Thr604Met) rs754072203 0.00001
NM_005026.5(PIK3CD):c.1864G>A (p.Glu622Lys) rs993552815 0.00001
NM_005026.5(PIK3CD):c.1871A>C (p.Tyr624Ser) rs771265754 0.00001
NM_005026.5(PIK3CD):c.1882G>A (p.Glu628Lys) rs1287221059 0.00001
NM_005026.5(PIK3CD):c.1922G>A (p.Arg641His) rs761809287 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_005026.5(PIK3CD):c.2055+5G>A rs1648720883 0.00001
NM_005026.5(PIK3CD):c.2074C>G (p.Leu692Val) rs1481047336 0.00001
NM_005026.5(PIK3CD):c.2194C>G (p.Gln732Glu) rs376114835 0.00001
NM_005026.5(PIK3CD):c.2296G>A (p.Glu766Lys) rs745896452 0.00001
NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser) rs200226248 0.00001
NM_005026.5(PIK3CD):c.2312G>T (p.Gly771Val) rs749787380 0.00001
NM_005026.5(PIK3CD):c.2364G>C (p.Met788Ile) rs1247300105 0.00001
NM_005026.5(PIK3CD):c.2488C>T (p.Arg830Cys) rs554743340 0.00001
NM_005026.5(PIK3CD):c.2591C>T (p.Pro864Leu) rs148984508 0.00001
NM_005026.5(PIK3CD):c.259C>T (p.Arg87Trp) rs768486795 0.00001
NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys) rs1557659540 0.00001
NM_005026.5(PIK3CD):c.2830C>G (p.Gln944Glu) rs757964104 0.00001
NM_005026.5(PIK3CD):c.2869C>T (p.Arg957Trp) rs758647199 0.00001
NM_005026.5(PIK3CD):c.2872G>T (p.Gly958Cys) rs755117692 0.00001
NM_005026.5(PIK3CD):c.2905C>T (p.Arg969Cys) rs551657853 0.00001
NM_005026.5(PIK3CD):c.304G>A (p.Val102Met) rs1647296006 0.00001
NM_005026.5(PIK3CD):c.328A>C (p.Lys110Gln) rs1449263530 0.00001
NM_005026.5(PIK3CD):c.397G>A (p.Asp133Asn) rs754053878 0.00001
NM_005026.5(PIK3CD):c.401C>T (p.Pro134Leu) rs1351397800 0.00001
NM_005026.5(PIK3CD):c.563G>A (p.Arg188Gln) rs748146002 0.00001
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile) rs569586715 0.00001
NM_005026.5(PIK3CD):c.658G>T (p.Ala220Ser) rs1287665655 0.00001
NM_005026.5(PIK3CD):c.685C>T (p.Arg229Trp) rs761298080 0.00001
NM_005026.5(PIK3CD):c.707C>T (p.Pro236Leu) rs373049250 0.00001
NM_005026.5(PIK3CD):c.859G>C (p.Asp287His) rs1446283598 0.00001
NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg) rs969868296 0.00001
NM_005026.5(PIK3CD):c.8C>T (p.Pro3Leu) rs780051553 0.00001
NM_005026.5(PIK3CD):c.923C>T (p.Ala308Val) rs749687214 0.00001
NM_005026.5(PIK3CD):c.976G>A (p.Glu326Lys) rs148703447 0.00001
NC_000001.10:g.(?_9770494)_(9787124_?)del
NC_000001.10:g.(?_9770514)_(9787104_?)dup
NC_000001.10:g.(?_9779694)_(9781917_?)del
NC_000001.11:g.(?_9710436)_(9727066_?)dup
NM_005026.5(PIK3CD):c.1004C>G (p.Ala335Gly)
NM_005026.5(PIK3CD):c.1006G>A (p.Asp336Asn) rs760642664
NM_005026.5(PIK3CD):c.1009G>C (p.Glu337Gln)
NM_005026.5(PIK3CD):c.1013G>A (p.Arg338Gln)
NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)
NM_005026.5(PIK3CD):c.112C>A (p.Arg38Ser)
NM_005026.5(PIK3CD):c.113G>T (p.Arg38Leu)
NM_005026.5(PIK3CD):c.121A>C (p.Asn41His) rs1647005150
NM_005026.5(PIK3CD):c.1471-8T>G
NM_005026.5(PIK3CD):c.1475T>C (p.Leu492Ser)
NM_005026.5(PIK3CD):c.1478A>C (p.Glu493Ala) rs966409603
NM_005026.5(PIK3CD):c.1478A>G (p.Glu493Gly)
NM_005026.5(PIK3CD):c.1484G>A (p.Gly495Glu)
NM_005026.5(PIK3CD):c.1486_1487delinsTT (p.Arg496Leu)
NM_005026.5(PIK3CD):c.1494C>T (p.Ser498=)
NM_005026.5(PIK3CD):c.1504C>T (p.His502Tyr)
NM_005026.5(PIK3CD):c.1521+5G>A
NM_005026.5(PIK3CD):c.1549C>T (p.Arg517Trp)
NM_005026.5(PIK3CD):c.1550G>A (p.Arg517Gln)
NM_005026.5(PIK3CD):c.1552C>T (p.Arg518Trp)
NM_005026.5(PIK3CD):c.1577A>G (p.His526Arg)
NM_005026.5(PIK3CD):c.1579G>A (p.Glu527Lys) rs749871179
NM_005026.5(PIK3CD):c.1618G>C (p.Glu540Gln)
NM_005026.5(PIK3CD):c.1628C>T (p.Pro543Leu) rs2100955722
NM_005026.5(PIK3CD):c.1634C>T (p.Ala545Val) rs1220175470
NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)
NM_005026.5(PIK3CD):c.1643G>A (p.Arg548Gln) rs1297091785
NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)
NM_005026.5(PIK3CD):c.1673A>G (p.His558Arg) rs1648521215
NM_005026.5(PIK3CD):c.1687C>T (p.Gln563Ter)
NM_005026.5(PIK3CD):c.1690-3C>T
NM_005026.5(PIK3CD):c.1699C>G (p.Leu567Val)
NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs) rs2100840815
NM_005026.5(PIK3CD):c.1727T>C (p.Val576Ala)
NM_005026.5(PIK3CD):c.1738C>G (p.Leu580Val)
NM_005026.5(PIK3CD):c.1775T>C (p.Val592Ala) rs776226369
NM_005026.5(PIK3CD):c.1789A>G (p.Ile597Val) rs2100963194
NM_005026.5(PIK3CD):c.1796C>T (p.Ser599Leu)
NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala) rs749032083
NM_005026.5(PIK3CD):c.1801C>T (p.Arg601Trp) rs763994711
NM_005026.5(PIK3CD):c.1816G>A (p.Asp606Asn)
NM_005026.5(PIK3CD):c.1846G>A (p.Val616Met) rs1648646851
NM_005026.5(PIK3CD):c.1915G>A (p.Ala639Thr)
NM_005026.5(PIK3CD):c.1921C>T (p.Arg641Cys)
NM_005026.5(PIK3CD):c.1954C>T (p.Arg652Cys)
NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)
NM_005026.5(PIK3CD):c.1993G>A (p.Gly665Ser)
NM_005026.5(PIK3CD):c.2041G>A (p.Val681Met)
NM_005026.5(PIK3CD):c.2059G>A (p.Glu687Lys)
NM_005026.5(PIK3CD):c.2095G>A (p.Val699Ile) rs751020974
NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)
NM_005026.5(PIK3CD):c.2119C>A (p.Pro707Thr)
NM_005026.5(PIK3CD):c.2164G>T (p.Glu722Ter)
NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser) rs1043386158
NM_005026.5(PIK3CD):c.2295C>G (p.Asn765Lys)
NM_005026.5(PIK3CD):c.2297AGG[1] (p.Glu767del)
NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)
NM_005026.5(PIK3CD):c.2347+3G>A
NM_005026.5(PIK3CD):c.2348-10G>A
NM_005026.5(PIK3CD):c.2348-11_2356del rs1648840773
NM_005026.5(PIK3CD):c.2353C>T (p.Arg785Trp)
NM_005026.5(PIK3CD):c.2362A>G (p.Met788Val) rs1648845956
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs) rs1553168726
NM_005026.5(PIK3CD):c.2395G>A (p.Val799Ile)
NM_005026.5(PIK3CD):c.2419G>A (p.Asp807Asn) rs2100982447
NM_005026.5(PIK3CD):c.2455G>A (p.Gly819Arg) rs1648958091
NM_005026.5(PIK3CD):c.2462G>A (p.Arg821His)
NM_005026.5(PIK3CD):c.2481G>T (p.Val827=)
NM_005026.5(PIK3CD):c.2503G>A (p.Ala835Thr) rs1648966090
NM_005026.5(PIK3CD):c.2545G>A (p.Ala849Thr)
NM_005026.5(PIK3CD):c.2558A>T (p.Asp853Val)
NM_005026.5(PIK3CD):c.2597A>T (p.Glu866Val)
NM_005026.5(PIK3CD):c.2599G>T (p.Ala867Ser) rs1371422939
NM_005026.5(PIK3CD):c.2609G>A (p.Arg870Gln)
NM_005026.5(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.5(PIK3CD):c.2704C>T (p.Arg902Ter)
NM_005026.5(PIK3CD):c.2705G>A (p.Arg902Gln) rs202142608
NM_005026.5(PIK3CD):c.2718+5dup
NM_005026.5(PIK3CD):c.2719-15CTCCC[4]
NM_005026.5(PIK3CD):c.2761A>G (p.Thr921Ala)
NM_005026.5(PIK3CD):c.2764A>C (p.Lys922Gln) rs2101002894
NM_005026.5(PIK3CD):c.2780G>A (p.Arg927His)
NM_005026.5(PIK3CD):c.2785C>T (p.Arg929Cys) rs2101002964
NM_005026.5(PIK3CD):c.2863C>T (p.Arg955Trp)
NM_005026.5(PIK3CD):c.2864+3G>A
NM_005026.5(PIK3CD):c.2865-3C>T
NM_005026.5(PIK3CD):c.2870G>A (p.Arg957Gln)
NM_005026.5(PIK3CD):c.2906G>A (p.Arg969His)
NM_005026.5(PIK3CD):c.2944C>T (p.Arg982Trp)
NM_005026.5(PIK3CD):c.2945G>A (p.Arg982Gln)
NM_005026.5(PIK3CD):c.2948C>T (p.Ala983Val) rs975282953
NM_005026.5(PIK3CD):c.2997+4T>C rs1649271518
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=) rs1463951620
NM_005026.5(PIK3CD):c.2998-19C>A
NM_005026.5(PIK3CD):c.3001T>A (p.Ser1001Thr) rs2101042359
NM_005026.5(PIK3CD):c.3025G>A (p.Glu1009Lys)
NM_005026.5(PIK3CD):c.3046C>T (p.Arg1016Ter) rs1649753771
NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)
NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)
NM_005026.5(PIK3CD):c.30A>C (p.Glu10Asp)
NM_005026.5(PIK3CD):c.3109_3111del (p.Asn1037del)
NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)
NM_005026.5(PIK3CD):c.3112G>A (p.Val1038Met)
NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys) rs1205317546
NM_005026.5(PIK3CD):c.337A>G (p.Ile113Val) rs756298807
NM_005026.5(PIK3CD):c.342C>G (p.Asn114Lys)
NM_005026.5(PIK3CD):c.364G>A (p.Gly122Ser)
NM_005026.5(PIK3CD):c.371-18G>C rs1647322437
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr) rs1647002482
NM_005026.5(PIK3CD):c.454G>A (p.Ala152Thr)
NM_005026.5(PIK3CD):c.461G>A (p.Arg154Gln)
NM_005026.5(PIK3CD):c.494_512del (p.Tyr165fs)
NM_005026.5(PIK3CD):c.518C>A (p.Pro173His)
NM_005026.5(PIK3CD):c.524C>T (p.Ala175Val)
NM_005026.5(PIK3CD):c.538C>T (p.Pro180Ser)
NM_005026.5(PIK3CD):c.550C>T (p.Arg184Trp) rs1250682190
NM_005026.5(PIK3CD):c.551G>A (p.Arg184Gln)
NM_005026.5(PIK3CD):c.592G>A (p.Gly198Ser) rs1647371834
NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu) rs1257745660
NM_005026.5(PIK3CD):c.601-3C>T rs2100855814
NM_005026.5(PIK3CD):c.625A>G (p.Thr209Ala)
NM_005026.5(PIK3CD):c.641T>C (p.Leu214Pro) rs1647468905
NM_005026.5(PIK3CD):c.644C>T (p.Ala215Val)
NM_005026.5(PIK3CD):c.664C>T (p.Arg222Trp) rs772233114
NM_005026.5(PIK3CD):c.665G>A (p.Arg222Gln) rs1216060233
NM_005026.5(PIK3CD):c.695T>C (p.Leu232Pro)
NM_005026.5(PIK3CD):c.718A>T (p.Thr240Ser) rs1647485551
NM_005026.5(PIK3CD):c.719C>T (p.Thr240Met)
NM_005026.5(PIK3CD):c.733G>A (p.Gly245Ser) rs201035266
NM_005026.5(PIK3CD):c.761A>T (p.Tyr254Phe)
NM_005026.5(PIK3CD):c.767dup (p.Cys257fs)
NM_005026.5(PIK3CD):c.780+6G>T
NM_005026.5(PIK3CD):c.784A>G (p.Ile262Val)
NM_005026.5(PIK3CD):c.799C>T (p.His267Tyr) rs1570363781
NM_005026.5(PIK3CD):c.800A>G (p.His267Arg)
NM_005026.5(PIK3CD):c.809T>G (p.Leu270Trp) rs1647584874
NM_005026.5(PIK3CD):c.817C>T (p.His273Tyr) rs1647586090
NM_005026.5(PIK3CD):c.842C>T (p.Ser281Phe)
NM_005026.5(PIK3CD):c.850G>A (p.Ala284Thr)
NM_005026.5(PIK3CD):c.856C>A (p.Arg286=)
NM_005026.5(PIK3CD):c.856C>T (p.Arg286Trp)
NM_005026.5(PIK3CD):c.875C>T (p.Pro292Leu)
NM_005026.5(PIK3CD):c.878C>T (p.Ala293Val) rs765061150
NM_005026.5(PIK3CD):c.892A>G (p.Lys298Glu)
NM_005026.5(PIK3CD):c.905A>G (p.Lys302Arg)
NM_005026.5(PIK3CD):c.916A>G (p.Ile306Val) rs2100868986
NM_005026.5(PIK3CD):c.923C>A (p.Ala308Glu)
NM_005026.5(PIK3CD):c.931-9G>A
NM_005026.5(PIK3CD):c.938C>T (p.Ser313Phe) rs746649091
NM_005026.5(PIK3CD):c.940G>T (p.Val314Leu) rs770390674
NM_005026.5(PIK3CD):c.953C>T (p.Ser318Phe)
NM_005026.5(PIK3CD):c.965C>T (p.Pro322Leu) rs758304879
NM_005026.5(PIK3CD):c.970C>T (p.Arg324Cys) rs762697236
NM_005026.5(PIK3CD):c.971G>T (p.Arg324Leu) rs773473376
NM_005026.5(PIK3CD):c.973A>G (p.Ile325Val)
NM_005026.5(PIK3CD):c.982A>G (p.Ile328Val)
NM_005026.5(PIK3CD):c.987G>T (p.Gln329His)

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