ClinVar Miner

List of variants reported as likely benign for malignant migrating partial seizures of infancy by Genome-Nilou Lab

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_020822.3(KCNT1):c.1619+18C>T rs183348093 0.00074
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086 0.00033
NM_020822.3(KCNT1):c.2008+7C>T rs372707698 0.00030
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010 0.00027
NM_020822.3(KCNT1):c.759+13G>A rs375237065 0.00026
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 0.00025
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510 0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_020822.3(KCNT1):c.1620-17C>T rs376069264 0.00021
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144 0.00021
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618 0.00021
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_020822.3(KCNT1):c.3027+18C>T rs369541323 0.00019
NM_020822.3(KCNT1):c.3178-16G>T rs55906268 0.00019
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145 0.00016
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448 0.00016
NM_020822.3(KCNT1):c.2350-10C>T rs367855961 0.00015
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768 0.00014
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782 0.00014
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019 0.00012
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100 0.00012
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850 0.00009
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448 0.00008
NM_020822.3(KCNT1):c.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=) rs371632359 0.00008
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150 0.00008
NM_020822.3(KCNT1):c.434+10G>A rs187872786 0.00008
NM_020822.3(KCNT1):c.1036-12T>G rs113079797 0.00007
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992 0.00007
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266 0.00007
NM_020822.3(KCNT1):c.1769+8C>T rs371287985 0.00007
NM_020822.3(KCNT1):c.1770-15G>A rs746828967 0.00007
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404 0.00007
NM_020822.3(KCNT1):c.435-12G>C rs367739886 0.00007
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 0.00007
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=) rs200910140 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151 0.00006
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353 0.00006
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_020822.3(KCNT1):c.1402-5G>A rs573411729 0.00005
NM_020822.3(KCNT1):c.2008+20C>T rs371649094 0.00005
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 0.00005
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341 0.00004
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 0.00004
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800 0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985 0.00004
NM_020822.3(KCNT1):c.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279 0.00004
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376 0.00003
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465 0.00003
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872 0.00003
NM_020822.3(KCNT1):c.2841+18G>A rs763792397 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911 0.00002
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=) rs1208098376 0.00002
NM_020822.3(KCNT1):c.2008+9G>T rs375088109 0.00002
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485 0.00002
NM_020822.3(KCNT1):c.2349+20C>T rs375666062 0.00002
NM_020822.3(KCNT1):c.2350-13C>T rs374333732 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763 0.00002
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071 0.00002
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074 0.00002
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544 0.00002
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185 0.00002
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419 0.00002
NM_020822.3(KCNT1):c.1337+17G>A rs780243563 0.00001
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501 0.00001
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119 0.00001
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270 0.00001
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456 0.00001
NM_020822.3(KCNT1):c.2523-13G>A rs770824523 0.00001
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119 0.00001
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711 0.00001
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278 0.00001
NM_020822.3(KCNT1):c.2729+15C>T rs200624821 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012 0.00001
NM_020822.3(KCNT1):c.3027+19G>A rs778490327 0.00001
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066 0.00001
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746 0.00001
NM_020822.3(KCNT1):c.3177+16G>A rs749539780 0.00001
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=) rs747248633 0.00001
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396 0.00001
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.434+19C>T rs772750955 0.00001
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802 0.00001
NM_020822.3(KCNT1):c.861C>T (p.Cys287=) rs750884338 0.00001
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=) rs1354699667
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.855-7G>A rs768046676

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