ClinVar Miner

List of variants in gene PLCB1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
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.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
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.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
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.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
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.2907C>T (p.Ser969=) rs368328261 0.00025
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 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.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.2868G>A (p.Gln956=) rs149312175 0.00011
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170 0.00010
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.3533A>G (p.Asn1178Ser) rs200309017 0.00006
NM_015192.4(PLCB1):c.975T>C (p.Tyr325=) rs372723242 0.00006
NM_015192.4(PLCB1):c.114T>C (p.Val38=) rs146304198 0.00005
NM_015192.4(PLCB1):c.1242T>C (p.His414=) rs747192374 0.00004
NM_015192.4(PLCB1):c.1432G>A (p.Gly478Ser) rs749354249 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.2947C>T (p.Pro983Ser) rs371547145 0.00004
NM_015192.4(PLCB1):c.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_015192.4(PLCB1):c.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00003
NM_015192.4(PLCB1):c.1415A>C (p.Lys472Thr) rs368448785 0.00002
NM_015192.4(PLCB1):c.1542C>T (p.Asp514=) rs781714752 0.00002
NM_015192.4(PLCB1):c.2239A>G (p.Ile747Val) rs1349745410 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.464C>T (p.Ala155Val) rs148738915 0.00002
NM_015192.4(PLCB1):c.1014C>A (p.Gly338=) rs760110304 0.00001
NM_015192.4(PLCB1):c.1128C>T (p.Ile376=) rs1450261335 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.1710C>T (p.Phe570=) rs772233698 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 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.3300G>T (p.Arg1100=) rs370182417 0.00001
NM_015192.4(PLCB1):c.3337-4A>G rs774437098 0.00001
NM_015192.4(PLCB1):c.3366A>G (p.Glu1122=) rs762035591 0.00001
NM_015192.4(PLCB1):c.42G>A (p.Lys14=) rs775655063 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.942G>A (p.Leu314=) rs182563538 0.00001
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>A (p.Val360Met)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.107C>G (p.Thr36Ser)
NM_015192.4(PLCB1):c.13C>G (p.Gln5Glu)
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1644G>A (p.Gln548=)
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1915A>G (p.Met639Val)
NM_015192.4(PLCB1):c.198C>T (p.Leu66=)
NM_015192.4(PLCB1):c.20G>T (p.Gly7Val)
NM_015192.4(PLCB1):c.2194A>G (p.Ile732Val)
NM_015192.4(PLCB1):c.2212G>A (p.Val738Ile)
NM_015192.4(PLCB1):c.247-4C>T rs1183324381
NM_015192.4(PLCB1):c.2504A>G (p.Glu835Gly)
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2657-4A>G rs777637262
NM_015192.4(PLCB1):c.2662G>A (p.Val888Ile)
NM_015192.4(PLCB1):c.2764C>T (p.Leu922Phe)
NM_015192.4(PLCB1):c.2774A>G (p.Lys925Arg)
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.307A>T (p.Ile103Phe)
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.3369A>T (p.Lys1123Asn)
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.3395G>A (p.Arg1132His)
NM_015192.4(PLCB1):c.3403A>G (p.Ile1135Val)
NM_015192.4(PLCB1):c.3435G>C (p.Glu1145Asp)
NM_015192.4(PLCB1):c.3503C>A (p.Ala1168Asp)
NM_015192.4(PLCB1):c.3532A>G (p.Asn1178Asp)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.559A>G (p.Thr187Ala)
NM_015192.4(PLCB1):c.672A>G (p.Glu224=) rs1555780720
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.841A>G (p.Asn281Asp)
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.898A>G (p.Ser300Gly)

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