ClinVar Miner

List of variants in gene PLCB1 reported as benign for West syndrome

Included ClinVar conditions (23):
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.1889-43G>A rs993670 0.98398
NM_015192.4(PLCB1):c.3279-35A>G rs2327090 0.97325
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.1167+16G>A rs2295179 0.57134
NM_015192.4(PLCB1):c.1679-29C>T rs1015170 0.38615
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.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.1009+26C>G rs2273189 0.07044
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_015192.4(PLCB1):c.*1551A>G rs77690948 0.01631
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.178-15G>A rs6055775 0.01196
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
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.2309-15A>C rs117816042 0.00563
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
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.582T>C (p.Leu194=) rs150770296 0.00354
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
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.2930+20T>G rs45533233 0.00214
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_015192.4(PLCB1):c.2711-18C>T rs186797959 0.00181
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.1888+11G>A rs150219357 0.00100
NM_015192.4(PLCB1):c.246+12A>G rs200984500 0.00073
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.3129G>T (p.Thr1043=) rs141102170 0.00010
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.2414-14T>G rs755970261 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2043+22del rs761743488
NM_015192.4(PLCB1):c.2710+22del rs747461333
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu) rs2051304754

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