ClinVar Miner

List of variants in gene PLCB1 reported as uncertain significance for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 428
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_015192.4(PLCB1):c.*158T>A rs41275592 0.00287
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.*991A>C rs139726114 0.00202
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_015192.4(PLCB1):c.*2847T>A rs551121948 0.00061
NM_015192.4(PLCB1):c.*3046A>C rs557097380 0.00059
NM_015192.4(PLCB1):c.*1644T>C rs193061195 0.00051
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_015192.4(PLCB1):c.*2565G>A rs566701784 0.00037
NM_015192.4(PLCB1):c.*1724G>A rs546143014 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_015192.4(PLCB1):c.*2789G>A rs188626146 0.00033
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_015192.4(PLCB1):c.*1871G>A rs200559753 0.00027
NM_015192.4(PLCB1):c.*295T>C rs376353155 0.00024
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_015192.4(PLCB1):c.*1252T>A rs537113179 0.00017
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_015192.4(PLCB1):c.*1848A>T rs773609998 0.00016
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_015192.4(PLCB1):c.3569C>G (p.Pro1190Arg) rs200781362 0.00015
NM_015192.4(PLCB1):c.*1979T>G rs1002235917 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_015192.4(PLCB1):c.*785A>T rs886056972 0.00010
NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala) rs148288081 0.00010
NM_015192.4(PLCB1):c.*1682G>A rs1035139433 0.00009
NM_015192.4(PLCB1):c.*632A>G rs886056970 0.00009
NM_015192.4(PLCB1):c.*381G>A rs765987244 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3590C>T (p.Thr1197Ile) rs190019296 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_015192.4(PLCB1):c.232G>A (p.Ala78Thr) rs761393253 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.738G>A (p.Met246Ile) rs375123870 0.00007
NM_015192.4(PLCB1):c.*880G>T rs886056973 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2171A>G (p.Asn724Ser) rs762968564 0.00006
NM_015192.4(PLCB1):c.3423+6C>T rs779690813 0.00006
NM_015192.4(PLCB1):c.3533A>G (p.Asn1178Ser) rs200309017 0.00006
NM_015192.4(PLCB1):c.*1145A>C rs535936703 0.00005
NM_015192.4(PLCB1):c.*126A>G rs1049772195 0.00005
NM_015192.4(PLCB1):c.*1930G>T rs763981676 0.00005
NM_015192.4(PLCB1):c.3111+6C>T rs971351506 0.00005
NM_015192.4(PLCB1):c.*1965A>G rs905439149 0.00004
NM_015192.4(PLCB1):c.*2051C>T rs1024191399 0.00004
NM_015192.4(PLCB1):c.*964G>T rs886056974 0.00004
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2279G>A (p.Arg760His) rs377440334 0.00004
NM_015192.4(PLCB1):c.2318A>G (p.Tyr773Cys) rs948237591 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2853G>C (p.Lys951Asn) rs202226833 0.00004
NM_015192.4(PLCB1):c.2930A>G (p.Lys977Arg) rs757601519 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.346C>T (p.His116Tyr) rs1018596939 0.00004
NM_015192.4(PLCB1):c.735G>A (p.Met245Ile) rs780585750 0.00004
NM_015192.4(PLCB1):c.905A>G (p.Glu302Gly) rs774418267 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_015192.4(PLCB1):c.1317G>C (p.Glu439Asp) rs746127346 0.00003
NM_015192.4(PLCB1):c.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.2908G>A (p.Ala970Thr) rs763567304 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.301C>T (p.Arg101Cys) rs868772684 0.00003
NM_015192.4(PLCB1):c.3373G>A (p.Val1125Ile) rs773333771 0.00003
NM_015192.4(PLCB1):c.499G>A (p.Gly167Arg) rs749130736 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 0.00003
NM_015192.4(PLCB1):c.*2019G>A rs1009626644 0.00002
NM_015192.4(PLCB1):c.*2717G>A rs763021921 0.00002
NM_015192.4(PLCB1):c.-1G>C rs764523154 0.00002
NM_015192.4(PLCB1):c.1415A>C (p.Lys472Thr) rs368448785 0.00002
NM_015192.4(PLCB1):c.1551T>G (p.Asp517Glu) rs150189968 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.2829C>A (p.Asp943Glu) rs745349550 0.00002
NM_015192.4(PLCB1):c.2983G>A (p.Ala995Thr) rs780463144 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.3326A>G (p.Tyr1109Cys) rs747642151 0.00002
NM_015192.4(PLCB1):c.3475C>G (p.Leu1159Val) rs1987996323 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.3493G>A (p.Val1165Met) rs772786871 0.00002
NM_015192.4(PLCB1):c.3572G>C (p.Gly1191Ala) rs772366922 0.00002
NM_015192.4(PLCB1):c.464C>T (p.Ala155Val) rs148738915 0.00002
NM_015192.4(PLCB1):c.889C>T (p.Arg297Cys) rs149661663 0.00002
NM_015192.4(PLCB1):c.*1795A>C rs1280054046 0.00001
NM_015192.4(PLCB1):c.*2485G>C rs1988098726 0.00001
NM_015192.4(PLCB1):c.*372A>G rs886056967 0.00001
NM_015192.4(PLCB1):c.*423G>A rs886056969 0.00001
NM_015192.4(PLCB1):c.1183A>G (p.Ile395Val) rs564559831 0.00001
NM_015192.4(PLCB1):c.1219A>G (p.Ile407Val) rs546265226 0.00001
NM_015192.4(PLCB1):c.121A>G (p.Ile41Val) rs191106606 0.00001
NM_015192.4(PLCB1):c.1250C>T (p.Ser417Phe) rs559611655 0.00001
NM_015192.4(PLCB1):c.1366A>G (p.Met456Val) rs777452326 0.00001
NM_015192.4(PLCB1):c.1460C>T (p.Ser487Phe) rs1376374003 0.00001
NM_015192.4(PLCB1):c.1474G>A (p.Asp492Asn) rs1319451536 0.00001
NM_015192.4(PLCB1):c.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015192.4(PLCB1):c.1582-3C>A rs1055626063 0.00001
NM_015192.4(PLCB1):c.1643A>T (p.Gln548Leu) rs1158119382 0.00001
NM_015192.4(PLCB1):c.1657G>C (p.Glu553Gln) rs1555786069 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1686T>G (p.Asn562Lys) rs745674166 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.1742A>G (p.Lys581Arg) rs1568574949 0.00001
NM_015192.4(PLCB1):c.1930G>A (p.Gly644Arg) rs781536705 0.00001
NM_015192.4(PLCB1):c.1961T>C (p.Phe654Ser) rs369668806 0.00001
NM_015192.4(PLCB1):c.1962C>T (p.Phe654=) rs747774959 0.00001
NM_015192.4(PLCB1):c.2008G>A (p.Val670Ile) rs772981786 0.00001
NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn) rs775742325 0.00001
NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg) rs776660417 0.00001
NM_015192.4(PLCB1):c.2134G>T (p.Ala712Ser) rs978185234 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 0.00001
NM_015192.4(PLCB1):c.2267T>G (p.Phe756Cys) rs1350964561 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.2300T>C (p.Ile767Thr) rs745553901 0.00001
NM_015192.4(PLCB1):c.2387A>G (p.Lys796Arg) rs886056964 0.00001
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile) rs377053037 0.00001
NM_015192.4(PLCB1):c.2534G>A (p.Gly845Glu) rs749715935 0.00001
NM_015192.4(PLCB1):c.2552C>T (p.Ala851Val) rs1326445069 0.00001
NM_015192.4(PLCB1):c.2600C>T (p.Thr867Ile) rs746314670 0.00001
NM_015192.4(PLCB1):c.260G>A (p.Arg87His) rs750475493 0.00001
NM_015192.4(PLCB1):c.2753C>T (p.Ser918Leu) rs759604666 0.00001
NM_015192.4(PLCB1):c.2785G>C (p.Glu929Gln) rs758788229 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2893G>A (p.Ala965Thr) rs1253411202 0.00001
NM_015192.4(PLCB1):c.289C>T (p.Arg97Cys) rs778824465 0.00001
NM_015192.4(PLCB1):c.2930+13A>G rs779541589 0.00001
NM_015192.4(PLCB1):c.2930+4A>G rs1467441458 0.00001
NM_015192.4(PLCB1):c.2969T>C (p.Ile990Thr) rs758174226 0.00001
NM_015192.4(PLCB1):c.2992G>C (p.Asp998His) rs1982854661 0.00001
NM_015192.4(PLCB1):c.3074A>G (p.Tyr1025Cys) rs1250342429 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3105T>G (p.Ile1035Met) rs1458003629 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 0.00001
NM_015192.4(PLCB1):c.3172A>G (p.Lys1058Glu) rs771219955 0.00001
NM_015192.4(PLCB1):c.319T>C (p.Tyr107His) rs759519379 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val) rs1325949995 0.00001
NM_015192.4(PLCB1):c.3294G>T (p.Met1098Ile) rs1983651282 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.340A>G (p.Ile114Val) rs561450964 0.00001
NM_015192.4(PLCB1):c.3422A>C (p.Lys1141Thr) rs758111758 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3505A>G (p.Met1169Val) rs766079031 0.00001
NM_015192.4(PLCB1):c.3522T>G (p.Ser1174Arg) rs765066861 0.00001
NM_015192.4(PLCB1):c.3616G>A (p.Asp1206Asn) rs761748712 0.00001
NM_015192.4(PLCB1):c.3626G>A (p.Gly1209Glu) rs779064619 0.00001
NM_015192.4(PLCB1):c.379G>A (p.Ala127Thr) rs779377929 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.696-3T>C rs1439321294 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015192.4(PLCB1):c.853G>A (p.Ala285Thr) rs776416226 0.00001
NC_000020.10:g.(?_8113279)_(8352117_?)dup
NC_000020.10:g.(?_8113279)_(8862516_?)dup
NC_000020.10:g.(?_8113299)_(8352107_?)dup
NC_000020.10:g.(?_8113299)_(8352117_?)dup
NC_000020.10:g.(?_8608921)_(8609098_?)del
NC_000020.10:g.(?_8608921)_(8862496_?)dup
NC_000020.10:g.(?_8630001)_(8637951_?)del
NC_000020.10:g.(?_8696891)_(8862496_?)dup
NC_000020.10:g.(?_8862249)_(8862516_?)dup
NC_000020.11:g.(?_8371362)_(8371470_?)del
NC_000020.11:g.(?_8646082)_(8881869_?)dup
NC_000020.11:g.(?_8684912)_(8685098_?)del
NC_000020.11:g.(?_8684912)_(8881869_?)dup
NC_000020.11:g.(?_8757026)_(8881869_?)dup
NC_000020.11:g.8722354_8722356del rs1979690177
NM_015192.4(PLCB1):c.*1081T>C rs573965594
NM_015192.4(PLCB1):c.*1173G>A rs1988050698
NM_015192.4(PLCB1):c.*1342A>C rs1988056532
NM_015192.4(PLCB1):c.*1409A>G rs886056975
NM_015192.4(PLCB1):c.*1473T>A rs1988060561
NM_015192.4(PLCB1):c.*1707A>C rs708910
NM_015192.4(PLCB1):c.*2205C>A rs534913354
NM_015192.4(PLCB1):c.*57T>C rs928795274
NM_015192.4(PLCB1):c.*589G>A rs1988029728
NM_015192.4(PLCB1):c.*743T>C rs886056971
NM_015192.4(PLCB1):c.-311T>G rs1370389155
NM_015192.4(PLCB1):c.1010-3T>A rs2123427893
NM_015192.4(PLCB1):c.1049G>A (p.Arg350His) rs909616713
NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) rs377750225
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)
NM_015192.4(PLCB1):c.1159T>C (p.Ser387Pro)
NM_015192.4(PLCB1):c.1167+5A>G
NM_015192.4(PLCB1):c.1167+6G>A rs2123428266
NM_015192.4(PLCB1):c.1187C>T (p.Ala396Val)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.1249T>G (p.Ser417Ala)
NM_015192.4(PLCB1):c.1274C>T (p.Ala425Val) rs1171674168
NM_015192.4(PLCB1):c.1286G>A (p.Arg429Gln) rs551873449
NM_015192.4(PLCB1):c.1288C>A (p.Leu430Met) rs1979306410
NM_015192.4(PLCB1):c.1303G>A (p.Ala435Thr)
NM_015192.4(PLCB1):c.1319C>A (p.Pro440His)
NM_015192.4(PLCB1):c.1323G>A (p.Leu441=) rs1231131549
NM_015192.4(PLCB1):c.1324G>A (p.Glu442Lys) rs1356153164
NM_015192.4(PLCB1):c.1368G>A (p.Met456Ile) rs1979399616
NM_015192.4(PLCB1):c.1379A>G (p.Tyr460Cys) rs1600272774
NM_015192.4(PLCB1):c.1408T>C (p.Ser470Pro) rs1208741312
NM_015192.4(PLCB1):c.1417T>C (p.Ser473Pro) rs896514396
NM_015192.4(PLCB1):c.1463A>T (p.Asn488Ile)
NM_015192.4(PLCB1):c.1473T>A (p.Ser491Arg) rs2123468950
NM_015192.4(PLCB1):c.1501T>G (p.Ser501Ala) rs763886018
NM_015192.4(PLCB1):c.1508G>A (p.Gly503Glu)
NM_015192.4(PLCB1):c.1538A>G (p.Asp513Gly) rs941680744
NM_015192.4(PLCB1):c.1544A>T (p.Asp515Val) rs1568573426
NM_015192.4(PLCB1):c.1557C>A (p.Asp519Glu) rs1979694638
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1573A>T (p.Met525Leu) rs138851178
NM_015192.4(PLCB1):c.1591G>C (p.Gly531Arg) rs1979835329
NM_015192.4(PLCB1):c.1603A>G (p.Met535Val) rs1979835703
NM_015192.4(PLCB1):c.1685A>G (p.Asn562Ser) rs1319493393
NM_015192.4(PLCB1):c.171A>C (p.Gln57His) rs2123032607
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.1754A>G (p.Glu585Gly)
NM_015192.4(PLCB1):c.1763+2T>G rs1568574966
NM_015192.4(PLCB1):c.1764A>T (p.Glu588Asp) rs1334933670
NM_015192.4(PLCB1):c.177+8_177+13del
NM_015192.4(PLCB1):c.1773A>T (p.Lys591Asn) rs2123491392
NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu) rs1457373665
NM_015192.4(PLCB1):c.178-3C>T rs2122343481
NM_015192.4(PLCB1):c.1808G>T (p.Arg603Leu)
NM_015192.4(PLCB1):c.1813G>T (p.Asp605Tyr) rs2123491460
NM_015192.4(PLCB1):c.1831C>T (p.Pro611Ser) rs1980094549
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val) rs1555786704
NM_015192.4(PLCB1):c.1957G>C (p.Glu653Gln) rs2123500903
NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe) rs2122343584
NM_015192.4(PLCB1):c.1970G>A (p.Arg657Lys) rs1980372070
NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg) rs1986899325
NM_015192.4(PLCB1):c.2008G>T (p.Val670Leu) rs772981786
NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr) rs775742325
NM_015192.4(PLCB1):c.2015G>A (p.Gly672Glu) rs1555786715
NM_015192.4(PLCB1):c.2017A>G (p.Ile673Val)
NM_015192.4(PLCB1):c.209A>G (p.Lys70Arg)
NM_015192.4(PLCB1):c.2138T>G (p.Phe713Cys) rs2123510528
NM_015192.4(PLCB1):c.2141A>G (p.Lys714Arg) rs2123510534
NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr) rs2122343640
NM_015192.4(PLCB1):c.2176G>C (p.Val726Leu)
NM_015192.4(PLCB1):c.2213T>C (p.Val738Ala) rs1980744187
NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)
NM_015192.4(PLCB1):c.2243C>T (p.Ala748Val) rs1980745626
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2270T>C (p.Ile757Thr) rs1488351224
NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys) rs1194618095
NM_015192.4(PLCB1):c.2290G>C (p.Val764Leu)
NM_015192.4(PLCB1):c.2293C>G (p.Gln765Glu) rs1980748318
NM_015192.4(PLCB1):c.2302C>T (p.Arg768Trp)
NM_015192.4(PLCB1):c.2318A>T (p.Tyr773Phe) rs948237591
NM_015192.4(PLCB1):c.2320A>T (p.Ile774Phe)
NM_015192.4(PLCB1):c.2324G>A (p.Cys775Tyr) rs1209875193
NM_015192.4(PLCB1):c.2335G>A (p.Glu779Lys)
NM_015192.4(PLCB1):c.2346G>C (p.Gln782His) rs2123518683
NM_015192.4(PLCB1):c.2347C>A (p.Pro783Thr) rs1980812475
NM_015192.4(PLCB1):c.2377A>G (p.Ile793Val) rs1980815338
NM_015192.4(PLCB1):c.2413+3A>C rs2123518817
NM_015192.4(PLCB1):c.2413+6C>A
NM_015192.4(PLCB1):c.2422G>A (p.Glu808Lys)
NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu) rs2122343800
NM_015192.4(PLCB1):c.2446T>C (p.Tyr816His)
NM_015192.4(PLCB1):c.2449G>A (p.Val817Met) rs1568580795
NM_015192.4(PLCB1):c.2458A>T (p.Met820Leu)
NM_015192.4(PLCB1):c.245A>T (p.Lys82Met) rs1600350860
NM_015192.4(PLCB1):c.247-3C>A rs1568534926
NM_015192.4(PLCB1):c.2494C>G (p.Leu832Val) rs2123521466
NM_015192.4(PLCB1):c.2504AAG[2] (p.Glu837del) rs1213359058
NM_015192.4(PLCB1):c.2506G>A (p.Glu836Lys) rs1980880915
NM_015192.4(PLCB1):c.2507A>G (p.Glu836Gly)
NM_015192.4(PLCB1):c.250C>A (p.Pro84Thr)
NM_015192.4(PLCB1):c.251C>T (p.Pro84Leu) rs781293608
NM_015192.4(PLCB1):c.2523+3G>A rs2123521598
NM_015192.4(PLCB1):c.2543C>T (p.Pro848Leu) rs2123562586
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2560G>C (p.Glu854Gln) rs1227346164
NM_015192.4(PLCB1):c.2565G>C (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2569A>G (p.Thr857Ala)
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2609T>C (p.Leu870Pro) rs1171306759
NM_015192.4(PLCB1):c.2611A>G (p.Thr871Ala) rs1981777815
NM_015192.4(PLCB1):c.2614C>A (p.Pro872Thr) rs769110563
NM_015192.4(PLCB1):c.2619G>T (p.Lys873Asn) rs1981778719
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2624C>A (p.Pro875His) rs1386644525
NM_015192.4(PLCB1):c.2650G>A (p.Ala884Thr) rs1274123563
NM_015192.4(PLCB1):c.265C>A (p.Leu89Ile) rs1988421541
NM_015192.4(PLCB1):c.2669C>T (p.Ala890Val) rs2123572097
NM_015192.4(PLCB1):c.2680A>G (p.Thr894Ala) rs2123572151
NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys) rs775341189
NM_015192.4(PLCB1):c.2779T>C (p.Tyr927His) rs2123585864
NM_015192.4(PLCB1):c.2788A>G (p.Met930Val)
NM_015192.4(PLCB1):c.2789T>C (p.Met930Thr)
NM_015192.4(PLCB1):c.2797C>G (p.Leu933Val) rs143664316
NM_015192.4(PLCB1):c.2798T>C (p.Leu933Pro) rs147191017
NM_015192.4(PLCB1):c.2807G>A (p.Arg936Lys) rs1982257294
NM_015192.4(PLCB1):c.2813A>G (p.His938Arg) rs1982257980
NM_015192.4(PLCB1):c.2830C>A (p.Leu944Ile) rs561685256
NM_015192.4(PLCB1):c.2830C>G (p.Leu944Val) rs561685256
NM_015192.4(PLCB1):c.2836A>G (p.Lys946Glu)
NM_015192.4(PLCB1):c.283A>C (p.Ile95Leu) rs199888561
NM_015192.4(PLCB1):c.2844C>A (p.His948Gln)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.2951A>G (p.Asp984Gly)
NM_015192.4(PLCB1):c.295G>C (p.Glu99Gln) rs1555777814
NM_015192.4(PLCB1):c.2965A>G (p.Thr989Ala)
NM_015192.4(PLCB1):c.2966C>A (p.Thr989Lys) rs1982851592
NM_015192.4(PLCB1):c.2966C>T (p.Thr989Met)
NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly) rs1568564198
NM_015192.4(PLCB1):c.29C>T (p.Ala10Val) rs1568564198
NM_015192.4(PLCB1):c.3004A>C (p.Thr1002Pro) rs1358746132
NM_015192.4(PLCB1):c.3015A>C (p.Leu1005Phe) rs765989029
NM_015192.4(PLCB1):c.3016A>G (p.Ile1006Val) rs2146203878
NM_015192.4(PLCB1):c.3052A>G (p.Asn1018Asp) rs2146203906
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3071A>G (p.Tyr1024Cys) rs1982859175
NM_015192.4(PLCB1):c.3112-10_3112-8del rs1163689360
NM_015192.4(PLCB1):c.3115A>C (p.Ile1039Leu)
NM_015192.4(PLCB1):c.3127A>G (p.Thr1043Ala) rs1983594595
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.3143A>C (p.Glu1048Ala) rs2146220200
NM_015192.4(PLCB1):c.316G>A (p.Val106Met)
NM_015192.4(PLCB1):c.316G>C (p.Val106Leu) rs1181797347
NM_015192.4(PLCB1):c.3188+5G>C rs2146220264
NM_015192.4(PLCB1):c.3188A>C (p.Lys1063Thr) rs1371029553
NM_015192.4(PLCB1):c.3215T>C (p.Met1072Thr)
NM_015192.4(PLCB1):c.3238A>G (p.Ile1080Val) rs1303531069
NM_015192.4(PLCB1):c.3239T>C (p.Ile1080Thr) rs1983606408
NM_015192.4(PLCB1):c.325C>T (p.Pro109Ser) rs748150163
NM_015192.4(PLCB1):c.3271A>G (p.Met1091Val)
NM_015192.4(PLCB1):c.3272T>C (p.Met1091Thr)
NM_015192.4(PLCB1):c.3273G>A (p.Met1091Ile) rs1983608682
NM_015192.4(PLCB1):c.3278+13T>C rs886056965
NM_015192.4(PLCB1):c.331C>T (p.Leu111Phe) rs373051695
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015192.4(PLCB1):c.3337-3T>C rs778662535
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.3341A>T (p.Glu1114Val) rs1983683540
NM_015192.4(PLCB1):c.3346G>A (p.Ala1116Thr) rs1983683787
NM_015192.4(PLCB1):c.3358C>T (p.Arg1120Trp) rs2146222855
NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)
NM_015192.4(PLCB1):c.3370C>T (p.Leu1124Phe) rs1983685665
NM_015192.4(PLCB1):c.3373G>T (p.Val1125Leu) rs773333771
NM_015192.4(PLCB1):c.3394C>A (p.Arg1132Ser) rs755357721
NM_015192.4(PLCB1):c.3394C>G (p.Arg1132Gly) rs755357721
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.3400C>G (p.Gln1134Glu)
NM_015192.4(PLCB1):c.3419C>A (p.Pro1140His) rs2146222951
NM_015192.4(PLCB1):c.3423G>A (p.Lys1141=) rs2146222958
NM_015192.4(PLCB1):c.3447A>C (p.Glu1149Asp) rs142432676
NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) rs1265159999
NM_015192.4(PLCB1):c.3487G>C (p.Glu1163Gln)
NM_015192.4(PLCB1):c.348T>A (p.His116Gln) rs965963245
NM_015192.4(PLCB1):c.3507G>A (p.Met1169Ile) rs2146337606
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3532A>T (p.Asn1178Tyr)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
NM_015192.4(PLCB1):c.3553T>C (p.Ser1185Pro) rs1988000094
NM_015192.4(PLCB1):c.3559_3563del (p.Ser1187fs) rs2146337709
NM_015192.4(PLCB1):c.3566A>G (p.Asp1189Gly)
NM_015192.4(PLCB1):c.3589A>G (p.Thr1197Ala) rs199568969
NM_015192.4(PLCB1):c.3619A>G (p.Ile1207Val) rs754119167
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.368AAG[2] (p.Glu125del) rs766595102
NM_015192.4(PLCB1):c.369A>C (p.Gln123His) rs755560918
NM_015192.4(PLCB1):c.384+3A>G
NM_015192.4(PLCB1):c.400G>A (p.Val134Ile) rs1199339071
NM_015192.4(PLCB1):c.406A>T (p.Ser136Cys)
NM_015192.4(PLCB1):c.413C>T (p.Ala138Val) rs2123285821
NM_015192.4(PLCB1):c.425T>C (p.Leu142Pro) rs2123285875
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_015192.4(PLCB1):c.438G>A (p.Met146Ile) rs1989165148
NM_015192.4(PLCB1):c.446A>T (p.Asp149Val) rs2123285994
NM_015192.4(PLCB1):c.465C>T (p.Ala155=)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.480G>T (p.Lys160Asn)
NM_015192.4(PLCB1):c.509C>T (p.Pro170Leu) rs1989211414
NM_015192.4(PLCB1):c.520A>G (p.Ile174Val) rs748138827
NM_015192.4(PLCB1):c.568G>A (p.Glu190Lys) rs2123295095
NM_015192.4(PLCB1):c.598G>A (p.Asp200Asn) rs2123318774
NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) rs1989486420
NM_015192.4(PLCB1):c.612A>T (p.Gln204His) rs1989486497
NM_015192.4(PLCB1):c.619T>A (p.Phe207Ile) rs1358940714
NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn) rs2122992000
NM_015192.4(PLCB1):c.650A>G (p.Asn217Ser)
NM_015192.4(PLCB1):c.654C>A (p.Asn218Lys)
NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly) rs990536521
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) rs1989488581
NM_015192.4(PLCB1):c.682A>G (p.Ile228Val) rs1600230250
NM_015192.4(PLCB1):c.695+6_695+7del rs749649429
NM_015192.4(PLCB1):c.737T>C (p.Met246Thr)
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.778G>C (p.Glu260Gln) rs2123322675
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.803A>G (p.Gln268Arg) rs1989533526
NM_015192.4(PLCB1):c.806A>G (p.Glu269Gly) rs1989533771
NM_015192.4(PLCB1):c.807G>T (p.Glu269Asp) rs1222914240
NM_015192.4(PLCB1):c.857G>A (p.Arg286Lys) rs1420410909
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.890G>T (p.Arg297Leu)
NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg) rs772081862
NM_015192.4(PLCB1):c.900T>G (p.Ser300Arg)
NM_015192.4(PLCB1):c.902G>C (p.Gly301Ala) rs2123399482
NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)
NM_015192.4(PLCB1):c.995A>G (p.Asn332Ser)

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