ClinVar Miner

List of variants in gene PLCB1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
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.2088C>T (p.Tyr696=) rs189186909 0.00013
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.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.2731G>A (p.Glu911Lys) rs1364886743 0.00001
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=) rs760894841 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 0.00001
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=) rs587780417 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(chr20:8089954-8586513)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(chr20:8694762-8980041)x3
GRCh37/hg19 20p12.3(chr20:8720438-8943614)x3
NM_015192.4(PLCB1):c.1195G>A (p.Ala399Thr)
NM_015192.4(PLCB1):c.1330T>C (p.Tyr444His)
NM_015192.4(PLCB1):c.1465A>G (p.Thr489Ala)
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.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.175A>G (p.Lys59Glu) rs2123032627
NM_015192.4(PLCB1):c.1980G>T (p.Lys660Asn) rs1555786711
NM_015192.4(PLCB1):c.21A>C (p.Gly7=) rs587780418
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.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2790G>T (p.Met930Ile) rs1982256238
NM_015192.4(PLCB1):c.2930+8C>A rs767172522
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.3343G>A (p.Glu1115Lys)
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.3639_3640dup (p.Thr1214fs)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867

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