ClinVar Miner

List of variants studied for non-syndromic polydactyly by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 408
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
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_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
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_005465.7(AKT3):c.1359T>C (p.Asp453=) rs142844303 0.00141
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.696G>A (p.Val232=) rs571661207 0.00101
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
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_005465.7(AKT3):c.285-13C>T rs201603638 0.00051
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_005465.7(AKT3):c.792C>T (p.Ser264=) rs77764554 0.00039
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=) rs772272053 0.00037
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005465.7(AKT3):c.46+12G>A rs184404650 0.00036
NM_005465.7(AKT3):c.1163+17G>A rs367951410 0.00034
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_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 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.706G>A (p.Ala236Thr) rs941281903 0.00012
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.527G>A (p.Ser176Asn) rs111848145 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_005465.7(AKT3):c.1082A>G (p.Glu361Gly) rs760280114 0.00008
NM_005465.7(AKT3):c.165A>G (p.Ser55=) rs369662909 0.00007
NM_005465.7(AKT3):c.306C>A (p.Ile102=) rs528649886 0.00007
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_005465.7(AKT3):c.820-10T>G rs370193515 0.00006
NM_005465.7(AKT3):c.840C>T (p.Asp280=) rs201347487 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.564C>G (p.Pro188=) rs756748269 0.00005
NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys) rs771494754 0.00005
NM_005465.7(AKT3):c.996A>G (p.Leu332=) rs371532988 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_005465.7(AKT3):c.1104A>G (p.Thr368=) rs774883413 0.00004
NM_005465.7(AKT3):c.16A>G (p.Ile6Val) rs750279631 0.00004
NM_005465.7(AKT3):c.820-18A>G rs750153115 0.00004
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_005027.4(PIK3R2):c.1808+10C>T rs549556976 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.734C>A (p.Ala245Asp) rs897040629 0.00003
NM_005465.7(AKT3):c.906C>T (p.Thr302=) rs770248544 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_005465.7(AKT3):c.1050C>T (p.Asp350=) rs1026697335 0.00002
NM_005465.7(AKT3):c.1163+16C>T rs781443210 0.00002
NM_005465.7(AKT3):c.1386T>C (p.Asn462=) rs778193336 0.00002
NM_005465.7(AKT3):c.47-18C>T rs186964075 0.00002
NM_005465.7(AKT3):c.564T>C (p.Asp188=) rs775503811 0.00002
NM_005465.7(AKT3):c.882A>G (p.Lys294=) rs766767139 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.553C>G (p.Leu185Val) rs1016301486 0.00001
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) rs754693011 0.00001
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) rs770193876 0.00001
NM_005027.4(PIK3R2):c.598+20C>T rs1287594814 0.00001
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=) rs977691358 0.00001
NM_005465.7(AKT3):c.1044C>T (p.Asn348=) rs199771220 0.00001
NM_005465.7(AKT3):c.1164-7C>T rs187627364 0.00001
NM_005465.7(AKT3):c.1275A>G (p.Gln425=) rs143949494 0.00001
NM_005465.7(AKT3):c.172+19T>C rs746689777 0.00001
NM_005465.7(AKT3):c.284+10T>C rs371954528 0.00001
NM_005465.7(AKT3):c.409A>G (p.Thr137Ala) rs1351256745 0.00001
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile) rs202064755 0.00001
NM_005465.7(AKT3):c.417T>C (p.His139=) rs1283519302 0.00001
NM_005465.7(AKT3):c.47-10C>T rs751741670 0.00001
NM_005465.7(AKT3):c.562-6T>C rs1277089927 0.00001
NM_005465.7(AKT3):c.726G>A (p.Val242=) rs781331863 0.00001
NM_005465.7(AKT3):c.729C>T (p.Phe243=) rs1340146435 0.00001
NC_000001.10:g.(?_241661128)_(245027609_?)dup
NC_000001.10:g.(?_243303219)_(243859038_?)dup
NC_000001.10:g.(?_243652296)_(243859038_?)del
NC_000001.10:g.(?_243663038)_(243668656_?)dup
NC_000019.10:g.(?_18167110)_(18169314_?)dup
NC_000019.9:g.(?_17927663)_(19312528_?)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.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+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.1140C>T (p.Val380=)
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
NM_005027.4(PIK3R2):c.1192G>A (p.Val398Ile)
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) rs771756537
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
NM_005027.4(PIK3R2):c.127G>A (p.Val43Met)
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.1291-16C>T
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.1417-11C>T
NM_005027.4(PIK3R2):c.1417-14G>C
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.1560-16C>G
NM_005027.4(PIK3R2):c.1560-18A>G
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
NM_005027.4(PIK3R2):c.158G>C (p.Ser53Thr)
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
NM_005027.4(PIK3R2):c.1608T>C (p.His536=)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1637T>C (p.Leu546Pro)
NM_005027.4(PIK3R2):c.1642G>A (p.Ala548Thr)
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.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005027.4(PIK3R2):c.1736+10G>A
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.1766A>G (p.Lys589Arg)
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser)
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=) rs557476940
NM_005027.4(PIK3R2):c.1803T>C (p.Thr601=)
NM_005027.4(PIK3R2):c.1808+11G>C
NM_005027.4(PIK3R2):c.1808+16G>A
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.1840C>T (p.Leu614Phe)
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.1890G>A (p.Thr630=)
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
NM_005027.4(PIK3R2):c.1904T>C (p.Met635Thr)
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.1979+20G>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.200G>A (p.Arg67Gln)
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>A (p.Ala718Asp)
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.2172G>A (p.Pro724=)
NM_005027.4(PIK3R2):c.254G>A (p.Arg85Gln)
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.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.337G>A (p.Asp113Asn)
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.409A>G (p.Arg137Gly)
NM_005027.4(PIK3R2):c.415+17C>T
NM_005027.4(PIK3R2):c.415+8C>T
NM_005027.4(PIK3R2):c.416-3C>T
NM_005027.4(PIK3R2):c.416-5C>G
NM_005027.4(PIK3R2):c.423C>G (p.Asp141Glu)
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=) rs767495472
NM_005027.4(PIK3R2):c.435C>T (p.His145=)
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.498C>T (p.Asp166=)
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
NM_005027.4(PIK3R2):c.560C>A (p.Thr187Asn)
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
NM_005027.4(PIK3R2):c.576dup (p.Glu193fs)
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
NM_005027.4(PIK3R2):c.583C>T (p.Arg195Cys)
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.598+12G>A
NM_005027.4(PIK3R2):c.598+15T>C
NM_005027.4(PIK3R2):c.599-12A>G
NM_005027.4(PIK3R2):c.608G>T (p.Gly203Val)
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
NM_005027.4(PIK3R2):c.618G>T (p.Gly206=)
NM_005027.4(PIK3R2):c.655G>A (p.Ala219Thr)
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly) rs2147950675
NM_005027.4(PIK3R2):c.6G>A (p.Ala2=)
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=) rs2043744166
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) rs1168878327
NM_005027.4(PIK3R2):c.721_741dup (p.Gly247_Ala248insProAlaValArgAlaLeuGly)
NM_005027.4(PIK3R2):c.730C>A (p.Arg244=)
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
NM_005027.4(PIK3R2):c.755C>A (p.Pro252Gln)
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) rs1173823214
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
NM_005027.4(PIK3R2):c.811G>T (p.Asp271Tyr)
NM_005027.4(PIK3R2):c.815+20C>T
NM_005027.4(PIK3R2):c.815+5GGGGC[3] rs1008971604
NM_005027.4(PIK3R2):c.815+7G>A rs2147950994
NM_005027.4(PIK3R2):c.816-9C>T
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.872A>G (p.His291Arg) rs558189276
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.902-10T>G
NM_005027.4(PIK3R2):c.902-11C>T
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
NM_005027.4(PIK3R2):c.91C>T (p.Leu31=)
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_005465.7(AKT3):c.1006A>G (p.Met336Val)
NM_005465.7(AKT3):c.1101A>C (p.Arg367=) rs2148466016
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
NM_005465.7(AKT3):c.1251+15T>C
NM_005465.7(AKT3):c.1251+5G>T rs780490457
NM_005465.7(AKT3):c.1252-10C>G rs2148363624
NM_005465.7(AKT3):c.1252-20C>G
NM_005465.7(AKT3):c.1252-20_1252-19del
NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) rs868556430
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr) rs2148363374
NM_005465.7(AKT3):c.136G>A (p.Asp46Asn)
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) rs1669592664
NM_005465.7(AKT3):c.1416C>T (p.Ser472=)
NM_005465.7(AKT3):c.145T>C (p.Tyr49His)
NM_005465.7(AKT3):c.172+13T>A
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.195A>G (p.Glu65=)
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) rs1553428545
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) rs1682656371
NM_005465.7(AKT3):c.273T>C (p.Thr91=) rs1057522821
NM_005465.7(AKT3):c.324A>T (p.Arg108Ser)
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
NM_005465.7(AKT3):c.382A>G (p.Ile128Val)
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
NM_005465.7(AKT3):c.429+15C>T
NM_005465.7(AKT3):c.430-11G>T
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.430-19T>C
NM_005465.7(AKT3):c.430-9del
NM_005465.7(AKT3):c.46+11C>T
NM_005465.7(AKT3):c.46+18C>G
NM_005465.7(AKT3):c.47-17G>A
NM_005465.7(AKT3):c.47-4G>A
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
NM_005465.7(AKT3):c.562-17C>T
NM_005465.7(AKT3):c.627+7G>A
NM_005465.7(AKT3):c.628-9dup
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
NM_005465.7(AKT3):c.682G>A (p.Val228Ile) rs1678068695
NM_005465.7(AKT3):c.685A>C (p.Asn229His) rs530590989
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_005465.7(AKT3):c.720G>A (p.Glu240=) rs1204640048
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) rs766197531
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.820-10T>A rs370193515
NM_005465.7(AKT3):c.820-12C>G rs1558618010
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
NM_005465.7(AKT3):c.948+3A>G rs2148488034
NM_005465.7(AKT3):c.948+9C>A rs776361820
NM_005465.7(AKT3):c.948+9C>T
NM_005465.7(AKT3):c.949-18T>C
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr) rs1064795602

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