ClinVar Miner

List of variants in gene PLCB1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.1889-43G>A rs993670 0.98398
NM_015192.4(PLCB1):c.863-261C>T rs6039230 0.97562
NM_015192.4(PLCB1):c.3423+11993G>C rs6056128 0.97513
NM_015192.4(PLCB1):c.3279-35A>G rs2327090 0.97325
NM_015192.4(PLCB1):c.2710+140C>T rs3886935 0.91499
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_015192.4(PLCB1):c.3279-57A>C rs4633993 0.89616
NM_015192.4(PLCB1):c.1336-205A>C rs3859675 0.89097
NM_015192.4(PLCB1):c.595-104G>A rs6140670 0.75653
NM_015192.4(PLCB1):c.1678+153A>T rs2327097 0.65888
NM_015192.4(PLCB1):c.2044-171T>C rs2143266 0.65794
NM_015192.4(PLCB1):c.1581+77C>G rs6086563 0.65737
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.1513+70T>C rs6039243 0.62133
NM_015192.4(PLCB1):c.246+61994A>G rs811302 0.60854
NM_015192.4(PLCB1):c.2044-149A>G rs2179479 0.59009
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_015192.4(PLCB1):c.246+86963C>G rs2207312 0.56654
NM_015192.4(PLCB1):c.246+61947C>G rs811766 0.50557
NM_015192.4(PLCB1):c.2209-131G>A rs6039246 0.45062
NM_015192.4(PLCB1):c.519-214C>T rs1473698 0.44932
NM_015192.4(PLCB1):c.862+92T>C rs2076640 0.43314
NM_015192.4(PLCB1):c.1679-29C>T rs1015170 0.38615
NM_015192.4(PLCB1):c.2043+286C>T rs6056046 0.38476
NM_015192.4(PLCB1):c.1679-56A>G rs1015171 0.37969
NM_015192.4(PLCB1):c.2930+120G>A rs737532 0.37116
NM_015192.4(PLCB1):c.2710+81A>G rs2294596 0.33958
NM_015192.4(PLCB1):c.464+75C>T rs1018443 0.31836
NM_015192.4(PLCB1):c.3336+60G>A rs6039269 0.31451
NM_015192.4(PLCB1):c.3111+171T>A rs2235612 0.30853
NM_015192.4(PLCB1):c.594+228C>T rs4816071 0.30850
NM_015192.4(PLCB1):c.2657-27C>T rs2064286 0.30157
NM_015192.4(PLCB1):c.2524-227A>T rs2076414 0.29438
NM_015192.4(PLCB1):c.246+87246T>C rs6140619 0.28710
NM_015192.4(PLCB1):c.246+87271G>A rs4813862 0.27503
NM_015192.4(PLCB1):c.519-164A>G rs6055974 0.25663
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.3423+24A>C rs2294598 0.24849
NM_015192.4(PLCB1):c.3279-290G>A rs3803945 0.24847
NM_015192.4(PLCB1):c.3278+152A>C rs2076410 0.24842
NM_015192.4(PLCB1):c.3336+294T>C rs4816087 0.24842
NM_015192.4(PLCB1):c.3112-279T>C rs6056113 0.24839
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_015192.4(PLCB1):c.2656+266C>A rs2076412 0.24624
NM_015192.4(PLCB1):c.1763+126A>G rs17446441 0.24507
NM_015192.4(PLCB1):c.3336+96A>G rs4816086 0.24215
NM_015192.4(PLCB1):c.2208+205A>G rs6118297 0.23478
NM_015192.4(PLCB1):c.1763+163T>C rs6086567 0.22493
NM_015192.4(PLCB1):c.518+96G>A rs2235947 0.22361
NM_015192.4(PLCB1):c.1251-189C>T rs2076690 0.19933
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_015192.4(PLCB1):c.384+225C>T rs11904917 0.14654
NM_015192.4(PLCB1):c.1513+142del rs142992378 0.13672
NM_015192.4(PLCB1):c.695+302A>G rs6140671 0.11243
NM_015192.4(PLCB1):c.1335+272C>G rs6056032 0.09992
NM_015192.4(PLCB1):c.1167+124C>T rs2295180 0.09603
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_015192.4(PLCB1):c.1010-228A>G rs6056027 0.07870
NM_015192.4(PLCB1):c.1009+68T>C rs2273190 0.07056
NM_015192.4(PLCB1):c.1009+26C>G rs2273189 0.07044
NM_015192.4(PLCB1):c.1250+42T>C rs6133609 0.06696
NM_015192.4(PLCB1):c.464+22G>A rs7273982 0.06136
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_015192.4(PLCB1):c.246+87207A>G rs77481388 0.05428
NM_015192.4(PLCB1):c.246+37065T>A rs73090244 0.05231
NM_015192.4(PLCB1):c.3423+11976G>A rs77249011 0.04628
NM_015192.4(PLCB1):c.2043+298A>G rs189896858 0.04387
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_015192.4(PLCB1):c.2524-83A>G rs76115176 0.04202
NM_015192.4(PLCB1):c.3423+12005dup rs139626006 0.04193
NM_015192.4(PLCB1):c.1581+184C>T rs6086564 0.03406
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_015192.4(PLCB1):c.2043+305A>C rs181160482 0.02443
NM_015192.4(PLCB1):c.*97A>G rs41275590 0.02442
NM_015192.4(PLCB1):c.2711-154C>G rs112748737 0.02191
NM_015192.4(PLCB1):c.246+87205G>A rs61429429 0.02100
NM_015192.4(PLCB1):c.3337-143C>T rs45440602 0.02003
NM_015192.4(PLCB1):c.1010-112C>G rs113328267 0.01759
NM_015192.4(PLCB1):c.247-162C>G rs6133595 0.01667
NM_015192.4(PLCB1):c.3424-78T>C rs77083364 0.01631
NM_015192.4(PLCB1):c.3424-49A>G rs75131892 0.01597
NM_015192.4(PLCB1):c.3278+202C>T rs75322791 0.01545
NM_015192.4(PLCB1):c.595-70A>G rs73895069 0.01498
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_015192.4(PLCB1):c.2931-177T>C rs139326062 0.01330
NM_015192.4(PLCB1):c.3423+151A>C rs45561932 0.01306
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_015192.4(PLCB1):c.2044-281G>A rs150693921 0.01161
NM_015192.4(PLCB1):c.246+62046A>G rs76394150 0.01150
NM_015192.4(PLCB1):c.3423+12087C>A rs116691803 0.01049
NM_015192.4(PLCB1):c.3423+11684C>T rs78180194 0.01048
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.1513+242C>T rs144615771 0.00961
NM_015192.4(PLCB1):c.2523+306C>T rs140928369 0.00956
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_015192.4(PLCB1):c.384+231C>T rs117690478 0.00867
NM_015192.4(PLCB1):c.3111+98G>A rs76806571 0.00848
NM_015192.4(PLCB1):c.3111+120A>T rs80131314 0.00847
NM_015192.4(PLCB1):c.1678+106C>A rs45559635 0.00844
NM_015192.4(PLCB1):c.2524-164C>T rs78793206 0.00747
NM_015192.4(PLCB1):c.595-333G>A rs147797979 0.00747
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.2043+219G>A rs184392635 0.00725
NM_015192.4(PLCB1):c.1763+55A>G rs149664182 0.00724
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.2308+178C>T rs112682541 0.00697
NM_015192.4(PLCB1):c.2309-30G>A rs111394675 0.00696
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_015192.4(PLCB1):c.595-49C>A rs145047916 0.00662
NM_015192.4(PLCB1):c.246+158C>T rs148907691 0.00639
NM_015192.4(PLCB1):c.862+265C>T rs145030237 0.00629
NM_015192.4(PLCB1):c.1168-33G>A rs151025537 0.00606
NM_015192.4(PLCB1):c.1009+153C>T rs143224597 0.00581
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_015192.4(PLCB1):c.2308+43G>A rs148386086 0.00562
NM_015192.4(PLCB1):c.100-283G>A rs141140026 0.00512
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_015192.4(PLCB1):c.3279-234C>T rs143075526 0.00454
NM_015192.4(PLCB1):c.246+61913G>C rs144176666 0.00416
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_015192.4(PLCB1):c.2209-152C>T rs190700066 0.00372
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_015192.4(PLCB1):c.1582-241G>A rs183694737 0.00318
NM_015192.4(PLCB1):c.2657-92T>C rs111540716 0.00304
NM_015192.4(PLCB1):c.594+21A>G rs4813868 0.00289
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_015192.4(PLCB1):c.3111+96G>T rs568559259 0.00272
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_015192.4(PLCB1):c.1168-156G>A rs142786771 0.00243
NM_015192.4(PLCB1):c.3336+95C>T rs530499821 0.00243
NM_015192.4(PLCB1):c.2930+20T>G rs45533233 0.00214
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
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.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
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.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
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.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_015192.4(PLCB1):c.1275G>A (p.Ala425=) rs143366963 0.00007
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 0.00003
NM_015192.4(PLCB1):c.1543G>A (p.Asp515Asn) rs745450384 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.816A>G (p.Gln272=) rs773100834 0.00002
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=) rs587780416 0.00001
NM_015192.4(PLCB1):c.246+26A>G rs547790493 0.00001
NM_015192.4(PLCB1):c.2731G>A (p.Glu911Lys) rs1364886743 0.00001
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=) rs760894841 0.00001
NM_015192.4(PLCB1):c.2880G>A (p.Leu960=) rs776759371 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.3337-4A>G rs774437098 0.00001
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=) rs587780417 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.432A>G (p.Gln144=) rs142874818 0.00001
NM_015192.4(PLCB1):c.564T>A (p.Ala188=) rs775374724 0.00001
NM_015192.4(PLCB1):c.707G>A (p.Ser236Asn) rs1367561790 0.00001
NM_015192.4(PLCB1):c.73G>C (p.Gly25Arg) rs753543778 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
GRCh37/hg19 20p12.3(chr20:8089954-8572965)x1
GRCh37/hg19 20p12.3(chr20:8089954-8586513)x1
GRCh37/hg19 20p12.3(chr20:8097724-8586513)x3
GRCh37/hg19 20p12.3(chr20:8100168-8572225)x3
GRCh37/hg19 20p12.3(chr20:8140411-8258600)x1
GRCh37/hg19 20p12.3(chr20:8151261-8449038)x3
GRCh37/hg19 20p12.3(chr20:8175139-8331120)x1
GRCh37/hg19 20p12.3(chr20:8472469-8477955)x1
GRCh37/hg19 20p12.3(chr20:8512966-8792352)x1
GRCh37/hg19 20p12.3(chr20:8582403-8679884)x3
GRCh37/hg19 20p12.3(chr20:8694762-8980041)x3
GRCh37/hg19 20p12.3(chr20:8701468-8732883)x3
GRCh37/hg19 20p12.3(chr20:8704552-8732883)x3
GRCh37/hg19 20p12.3(chr20:8720438-8943614)x3
GRCh37/hg19 20p12.3(chr20:8843844-8880111)x1
NM_015192.4(PLCB1):c.*1978_*1981dup
NM_015192.4(PLCB1):c.1009+241_1009+242del rs33921129
NM_015192.4(PLCB1):c.1168-157C>T rs148545469
NM_015192.4(PLCB1):c.1195G>A (p.Ala399Thr)
NM_015192.4(PLCB1):c.1330T>C (p.Tyr444His)
NM_015192.4(PLCB1):c.1332T>A (p.Tyr444Ter) rs1568571093
NM_015192.4(PLCB1):c.1443G>A (p.Lys481=) rs1038628707
NM_015192.4(PLCB1):c.1465A>G (p.Thr489Ala)
NM_015192.4(PLCB1):c.1513+231del rs55662891
NM_015192.4(PLCB1):c.1514-134T>C rs6056041
NM_015192.4(PLCB1):c.1514-187dup rs11480751
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.15A>T (p.Gln5His) rs781650706
NM_015192.4(PLCB1):c.1678+97A>C rs6056043
NM_015192.4(PLCB1):c.1679-34T>C
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.175A>G (p.Lys59Glu) rs2123032627
NM_015192.4(PLCB1):c.18C>T (p.Pro6=) rs745497485
NM_015192.4(PLCB1):c.1980G>T (p.Lys660Asn) rs1555786711
NM_015192.4(PLCB1):c.2043+265G>A rs6077416
NM_015192.4(PLCB1):c.2043+310A>G rs186106271
NM_015192.4(PLCB1):c.21A>C (p.Gly7=) rs587780418
NM_015192.4(PLCB1):c.2208+31A>C rs116339467
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.22G>T (p.Val8Leu) rs1568564187
NM_015192.4(PLCB1):c.2468G>A (p.Arg823Lys)
NM_015192.4(PLCB1):c.2523+305A>G rs2327099
NM_015192.4(PLCB1):c.2524-329A>C rs75603202
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2656+238G>A rs111274692
NM_015192.4(PLCB1):c.2657-232G>T rs2064285
NM_015192.4(PLCB1):c.2790G>T (p.Met930Ile) rs1982256238
NM_015192.4(PLCB1):c.2930+8C>A rs767172522
NM_015192.4(PLCB1):c.2931-203C>A rs2235614
NM_015192.4(PLCB1):c.2931-282ATT[2] rs3830779
NM_015192.4(PLCB1):c.3029A>C (p.Asp1010Ala) rs2146203884
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3160T>A (p.Leu1054Ile) rs1555790699
NM_015192.4(PLCB1):c.3278+54T>C rs2076411
NM_015192.4(PLCB1):c.3279-216A>G rs3803944
NM_015192.4(PLCB1):c.3343G>A (p.Glu1115Lys)
NM_015192.4(PLCB1):c.3424-110_3424-107dup rs34765604
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-293GT[13] rs3222517
NM_015192.4(PLCB1):c.3424-293GT[16] rs3222517
NM_015192.4(PLCB1):c.3424-293GT[17] rs3222517
NM_015192.4(PLCB1):c.3424-293GT[18] rs3222517
NM_015192.4(PLCB1):c.3424-293GT[19] rs3222517
NM_015192.4(PLCB1):c.3424-293GT[20] rs3222517
NM_015192.4(PLCB1):c.3549T>G (p.Pro1183=)
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.3639_3640dup (p.Thr1214fs)
NM_015192.4(PLCB1):c.385-264_385-263del rs138359630
NM_015192.4(PLCB1):c.464+256C>A rs138904904
NM_015192.4(PLCB1):c.464+31G>T rs41275582
NM_015192.4(PLCB1):c.519-178G>A rs1473697
NM_015192.4(PLCB1):c.594+157C>G rs6055975
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.862+123C>A rs2076639
NM_015192.4(PLCB1):c.863-124A>G rs45611036
NM_015192.4(PLCB1):c.863-57C>T rs59327455
NM_015192.4(PLCB1):c.863-62del rs61201694
NM_015192.4(PLCB1):c.863-62dup rs61201694
NM_015192.4(PLCB1):c.863-63_863-62del rs61201694
NM_015192.4(PLCB1):c.921T>G (p.Val307=)

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