ClinVar Miner

List of variants reported as uncertain significance for West syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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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.-168G>A rs548635433 0.00108
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.*2789G>A rs188626146 0.00033
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
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.714A>C (p.Pro238=) rs147567110 0.00023
NM_015192.4(PLCB1):c.*1252T>A rs537113179 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.*1979T>G rs1002235917 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.*785A>T rs886056972 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.3189-14C>T rs777913912 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.*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.*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.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 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.2308+14G>C rs768572485 0.00002
NM_015192.4(PLCB1):c.2983G>A (p.Ala995Thr) rs780463144 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 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.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1962C>T (p.Phe654=) rs747774959 0.00001
NM_015192.4(PLCB1):c.2387A>G (p.Lys796Arg) rs886056964 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2930+13A>G rs779541589 0.00001
NM_015192.4(PLCB1):c.2992G>C (p.Asp998His) rs1982854661 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr) rs776999454
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.-222C>G rs1600186673
NM_015192.4(PLCB1):c.-296A>G rs1600186615
NM_015192.4(PLCB1):c.-311T>G rs1370389155
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1763+2T>G rs1568574966
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.2565G>C (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3239T>C (p.Ile1080Thr) rs1983606408
NM_015192.4(PLCB1):c.3278+13T>C rs886056965
NM_015192.4(PLCB1):c.3619A>G (p.Ile1207Val) rs754119167

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