ClinVar Miner

List of variants in gene PIK3R2 studied for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

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Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.937= (p.Ser313=) rs1011320 0.04360
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.00840
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00768
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00686
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00240
NM_005027.4(PIK3R2):c.1416+11C>T rs140187437 0.00133
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_005027.4(PIK3R2):c.1416+15G>A rs202218011 0.00076
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00031
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) rs367971686 0.00031
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=) rs551874555 0.00029
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) rs762238231 0.00028
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005027.4(PIK3R2):c.323-16_323-15del rs374033727 0.00025
NM_005027.4(PIK3R2):c.1559+12G>A rs142415492 0.00024
NM_005027.4(PIK3R2):c.902-17G>A rs199796442 0.00020
NM_005027.4(PIK3R2):c.816-8C>T rs200494626 0.00018
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys) rs187640248 0.00016
NM_005027.4(PIK3R2):c.1011-19A>G rs373122934 0.00015
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=) rs201146203 0.00013
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=) rs893028434 0.00013
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=) rs370853734 0.00013
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln) rs374448993 0.00011
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=) rs747442212 0.00009
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=) rs565485814 0.00009
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_005027.4(PIK3R2):c.1290+4C>T rs376614345 0.00008
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=) rs774532039 0.00006
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=) rs756868198 0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) rs542398089 0.00006
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) rs1208639269 0.00006
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) rs768075445 0.00005
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=) rs748631629 0.00005
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=) rs761735561 0.00004
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) rs200914853 0.00004
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) rs200508580 0.00004
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) rs1022260890 0.00004
NM_005027.4(PIK3R2):c.1980-5C>T rs771103459 0.00004
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp) rs752430880 0.00004
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_005027.4(PIK3R2):c.467-17C>T rs373288144 0.00003
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) rs929809973 0.00003
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) rs754971694 0.00002
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His) rs566152147 0.00002
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=) rs112163556 0.00002
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys) rs759139578 0.00002
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) rs774502328 0.00002
NM_005027.4(PIK3R2):c.322+7A>G rs774883359 0.00002
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr) rs368358984 0.00001
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg) rs750258489 0.00001
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=) rs1031365601 0.00001
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His) rs2043808995 0.00001
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) rs765672206 0.00001
NM_005027.4(PIK3R2):c.1559+10G>A rs562886046 0.00001
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln) rs200781840 0.00001
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=) rs750813850 0.00001
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) rs772782368 0.00001
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=) rs780181859 0.00001
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) rs1239460949 0.00001
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) rs770694944 0.00001
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=) rs991022925 0.00001
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) rs920139065 0.00001
NM_005027.4(PIK3R2):c.467-11T>C rs746464481 0.00001
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) rs754693011 0.00001
NC_000019.10:g.(?_18167110)_(18169314_?)dup
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
NM_005027.4(PIK3R2):c.1010+11G>T
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val)
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) rs1568636630
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn) rs2147952202
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val) rs903373803
NM_005027.4(PIK3R2):c.1109+14C>T
NM_005027.4(PIK3R2):c.1109+1G>A
NM_005027.4(PIK3R2):c.1109+7G>T
NM_005027.4(PIK3R2):c.1110-10C>A rs1599977480
NM_005027.4(PIK3R2):c.1110-16C>T
NM_005027.4(PIK3R2):c.1110-3C>A
NM_005027.4(PIK3R2):c.1110-4C>T rs948209108
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) rs1421203694
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu) rs886041591
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg) rs2043767578
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) rs771756537
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) rs587777624
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
NM_005027.4(PIK3R2):c.1290+12C>T
NM_005027.4(PIK3R2):c.1290+19G>A
NM_005027.4(PIK3R2):c.1291-11C>T
NM_005027.4(PIK3R2):c.1291-15G>A rs767807584
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) rs199931960
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=) rs2147953748
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)
NM_005027.4(PIK3R2):c.1416+14C>T
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
NM_005027.4(PIK3R2):c.1559+11C>T
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=)
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp) rs1057519801
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln) rs1131691683
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005027.4(PIK3R2):c.1736+5G>C
NM_005027.4(PIK3R2):c.1736+6T>G
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=) rs557476940
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG rs2043834247
NM_005027.4(PIK3R2):c.1809-6C>T
NM_005027.4(PIK3R2):c.1809-7A>T rs201271257
NM_005027.4(PIK3R2):c.1809-8dup rs566994275
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) rs1258315228
NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser)
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
NM_005027.4(PIK3R2):c.1979+12G>A
NM_005027.4(PIK3R2):c.1980-16_1980-3del
NM_005027.4(PIK3R2):c.1980-4A>C
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter) rs2147945157
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp) rs2147960455
NM_005027.4(PIK3R2):c.2063C>T (p.Ser688Leu)
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=) rs372448001
NM_005027.4(PIK3R2):c.2085C>T (p.His695=)
NM_005027.4(PIK3R2):c.2094C>T (p.His698=)
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) rs1371555508
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
NM_005027.4(PIK3R2):c.322+18G>C
NM_005027.4(PIK3R2):c.322+18G>T rs201235026
NM_005027.4(PIK3R2):c.323-8C>T
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala)
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)
NM_005027.4(PIK3R2):c.415+17C>T
NM_005027.4(PIK3R2):c.415+8C>T
NM_005027.4(PIK3R2):c.416-5C>G
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=) rs767495472
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=) rs2147949807
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
NM_005027.4(PIK3R2):c.466+11G>T rs376952388
NM_005027.4(PIK3R2):c.466+17A>G
NM_005027.4(PIK3R2):c.466+20G>C
NM_005027.4(PIK3R2):c.467-5C>T
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) rs80233027
NM_005027.4(PIK3R2):c.496G>C (p.Asp166His)
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs) rs2043673731
NM_005027.4(PIK3R2):c.816-9C>T
NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala) rs2043752967
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser) rs112165780
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=)
NM_005027.4(PIK3R2):c.867G>A (p.Gln289=)
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=)
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489

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