ClinVar Miner

List of variants studied for infancy electroclinical syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_001040142.2(SCN2A):c.*1713G>A rs1007722 0.37578
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_015192.4(PLCB1):c.-170C>A rs139962835 0.04003
NM_001040142.2(SCN2A):c.*1758C>T rs75263553 0.03304
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_001040142.2(SCN2A):c.*2364T>G rs73969402 0.01942
NM_001040142.2(SCN2A):c.*2422G>T rs73972503 0.01941
NM_001040142.2(SCN2A):c.*2440C>G rs73972504 0.01941
NM_015192.4(PLCB1):c.*749G>C rs16995375 0.01704
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_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_001040142.2(SCN2A):c.*2423A>G rs77976453 0.00934
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_015192.4(PLCB1):c.*855G>A rs115731722 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.*1538G>T rs116163517 0.00719
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001040142.2(SCN2A):c.*417C>T rs141754622 0.00527
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001040142.2(SCN2A):c.*1507T>G rs149580267 0.00297
NM_015192.4(PLCB1):c.*158T>A rs41275592 0.00287
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
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_001040142.2(SCN2A):c.*1036T>C rs562663760 0.00256
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001040142.2(SCN2A):c.*853C>T rs188104763 0.00251
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_001040142.2(SCN2A):c.*557G>A rs182846824 0.00235
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_015192.4(PLCB1):c.*991A>C rs139726114 0.00202
NM_001040142.2(SCN2A):c.*1056T>C rs184628337 0.00195
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001040142.1(SCN2A):c.*2490G>A rs189308010 0.00146
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
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_001040142.2(SCN2A):c.*1474G>A rs138232803 0.00124
NM_001040142.2(SCN2A):c.*2480A>G rs184839439 0.00123
NM_001040142.2(SCN2A):c.*874A>G rs572817494 0.00111
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.-168G>A rs548635433 0.00108
NM_001040142.2(SCN2A):c.*2222G>A rs187365022 0.00104
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001040142.2(SCN2A):c.*792A>G rs539290679 0.00074
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_001040142.2(SCN2A):c.-51-1734del rs886054994 0.00064
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
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_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001040142.2(SCN2A):c.*2374T>G rs544322279 0.00039
NM_001040142.2(SCN2A):c.*2039A>G rs554913735 0.00038
NM_015192.4(PLCB1):c.*2565G>A rs566701784 0.00037
NM_001040142.2(SCN2A):c.-51-1762A>T rs1208312868 0.00035
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_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_015192.4(PLCB1):c.*1871G>A rs200559753 0.00027
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_015192.4(PLCB1):c.*295T>C rs376353155 0.00024
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_001040142.2(SCN2A):c.879T>G (p.Thr293=) rs201685102 0.00019
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_015192.4(PLCB1):c.*1252T>A rs537113179 0.00017
NM_001040142.2(SCN2A):c.*2358A>C rs191911206 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
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_001040142.2(SCN2A):c.*88G>A rs574867892 0.00014
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
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_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892 0.00011
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541 0.00010
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369 0.00010
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_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_015192.4(PLCB1):c.*381G>A rs765987244 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_001040142.2(SCN2A):c.*1000G>T rs886055003 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_015192.4(PLCB1):c.*880G>T rs886056973 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_001040142.2(SCN2A):c.*1622T>C rs554984144 0.00005
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_001040142.2(SCN2A):c.*1264A>G rs951534441 0.00004
NM_001040142.2(SCN2A):c.1939G>A (p.Ala647Thr) rs548056312 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001040142.2(SCN2A):c.5620G>A (p.Ala1874Thr) rs753977894 0.00004
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_001040142.2(SCN2A):c.*1003G>C rs886055004 0.00003
NM_001040142.2(SCN2A):c.*1433A>G rs886055005 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.890G>A (p.Arg297His) rs775904184 0.00003
NM_001040142.2(SCN2A):c.*690G>A rs1322180654 0.00002
NM_001040142.2(SCN2A):c.-51-1729T>C rs886054998 0.00002
NM_001040142.2(SCN2A):c.2175C>T (p.Cys725=) rs768349308 0.00002
NM_001040142.2(SCN2A):c.3521-15T>C rs886055000 0.00002
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_001040142.2(SCN2A):c.*1753C>T rs74881341 0.00001
NM_001040142.2(SCN2A):c.*1778A>C rs886055006 0.00001
NM_001040142.2(SCN2A):c.*535A>G rs770662807 0.00001
NM_001040142.2(SCN2A):c.-51-1758A>C rs867379149 0.00001
NM_001040142.2(SCN2A):c.-51-1914C>T rs886054989 0.00001
NM_001040142.2(SCN2A):c.-51-1925G>A rs749326085 0.00001
NM_001040142.2(SCN2A):c.1035-15C>G rs761906987 0.00001
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1441G>A (p.Gly481Arg) rs369488860 0.00001
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=) rs780072216 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.2766C>T (p.Arg922=) rs202006528 0.00001
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00001
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905 0.00001
NM_001040142.2(SCN2A):c.4775T>C (p.Ile1592Thr) rs199641159 0.00001
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186 0.00001
NM_001040142.2(SCN2A):c.5788A>G (p.Ser1930Gly) rs886055001 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
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_001040142.2(SCN2A):c.*1209C>T rs1702103045
NM_001040142.2(SCN2A):c.*1359G>T rs1702107512
NM_001040142.2(SCN2A):c.*1592G>A rs902494496
NM_001040142.2(SCN2A):c.*1825A>G rs886055007
NM_001040142.2(SCN2A):c.*2454C>T rs886055008
NM_001040142.2(SCN2A):c.*264C>T rs1702070313
NM_001040142.2(SCN2A):c.*291G>T rs886055002
NM_001040142.2(SCN2A):c.*437G>A rs553239308
NM_001040142.2(SCN2A):c.*47G>A rs377384458
NM_001040142.2(SCN2A):c.*47G>T rs377384458
NM_001040142.2(SCN2A):c.*535A>T rs770662807
NM_001040142.2(SCN2A):c.*987A>G rs958016137
NM_001040142.2(SCN2A):c.-42A>C rs755901960
NM_001040142.2(SCN2A):c.-51-1652A>G rs886054999
NM_001040142.2(SCN2A):c.-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup rs1553563950
NM_001040142.2(SCN2A):c.-51-1733A>T rs76193610
NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup rs886054996
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA rs1553563951
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT rs780674346
NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT rs780674346
NM_001040142.2(SCN2A):c.-51-1734G>A rs886054990
NM_001040142.2(SCN2A):c.-51-1734_-51-1733del rs1553563943
NM_001040142.2(SCN2A):c.-51-1735_-51-1733del rs886054992
NM_001040142.2(SCN2A):c.-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.1976G>T (p.Gly659Val) rs368887417
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe) rs766470088
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2619C>A (p.Ile873=) rs868404050
NM_001040142.2(SCN2A):c.2664G>A (p.Leu888=) rs1699478461
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.5677T>A (p.Tyr1893Asn) rs1702040004
NM_001040142.2(SCN2A):c.609T>C (p.Tyr203=) rs1697310016
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=) rs2228987
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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