ClinVar Miner

List of variants in gene KCNT1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1769+16A>G rs10776844 0.72033
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_020822.3(KCNT1):c.254+20T>C rs2385007 0.27844
NM_020822.3(KCNT1):c.1200+12T>G rs58604946 0.23256
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_020822.3(KCNT1):c.1036-15G>A rs112341167 0.02567
NM_020822.3(KCNT1):c.3502+16G>A rs112116686 0.01447
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849 0.00907
NM_020822.3(KCNT1):c.2729+9A>G rs12005420 0.00858
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
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.30G>A (p.Pro10=) rs139034501 0.00419
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_020822.3(KCNT1):c.854+10G>A rs146470183 0.00087
NM_020822.3(KCNT1):c.2842-15C>T rs372262576 0.00083
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824 0.00081
NM_020822.3(KCNT1):c.1619+18C>T rs183348093 0.00074
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_020822.3(KCNT1):c.760-19G>A rs375929015 0.00043
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_020822.3(KCNT1):c.1338-3C>T rs369562243 0.00031
NM_020822.3(KCNT1):c.2008+7C>T rs372707698 0.00030
NM_020822.3(KCNT1):c.334+10G>A rs185209587 0.00029
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445 0.00027
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.3502+18G>A rs374991913 0.00024
NM_020822.3(KCNT1):c.1620-16C>G rs369334561 0.00023
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) rs540422455 0.00021
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.2136C>T (p.Pro712=) rs377516058 0.00020
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.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408 0.00018
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_020822.3(KCNT1):c.1337+16C>T rs369329858 0.00010
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.434+10G>A rs187872786 0.00008
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.335-16G>A rs151217665 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 0.00007
NM_020822.3(KCNT1):c.1200+15C>T rs138631641 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 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.*13C>T rs373376689 0.00005
NM_020822.3(KCNT1):c.1337+7G>A rs374975940 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 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.3502+17C>T rs767500906 0.00005
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 0.00004
NM_020822.3(KCNT1):c.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.2523-6C>T rs992509278 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792 0.00003
NM_020822.3(KCNT1):c.1201-16T>C rs1057521711 0.00003
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377 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.3156+14C>G rs555174141 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=) rs756721305 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.2199G>T (p.Glu733Asp) rs772800657 0.00002
NM_020822.3(KCNT1):c.2349+20C>T rs375666062 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 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.879G>A (p.Glu293=) rs557092185 0.00002
NM_020822.3(KCNT1):c.-16C>T rs562987416 0.00001
NM_020822.3(KCNT1):c.-27C>T rs550838618 0.00001
NM_020822.3(KCNT1):c.1200+16G>A rs542132567 0.00001
NM_020822.3(KCNT1):c.1337+17G>A rs780243563 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.2522+14G>A rs947043112 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711 0.00001
NM_020822.3(KCNT1):c.261G>A (p.Gln87=) rs777687658 0.00001
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=) rs773647691 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.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile) rs1216283172 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3027+14G>A rs370564938 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.3156+15T>C rs910734807 0.00001
NM_020822.3(KCNT1):c.3177+16G>A rs749539780 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383 0.00001
NM_020822.3(KCNT1):c.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3587+14G>A rs765545901 0.00001
NM_020822.3(KCNT1):c.3609C>G (p.Pro1203=) rs767668014 0.00001
NM_020822.3(KCNT1):c.434+15C>T rs778629667 0.00001
NM_020822.3(KCNT1):c.434+19C>T rs772750955 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.759+6C>T rs1057522462 0.00001
NM_020822.3(KCNT1):c.-38C>T rs943933167
NM_020822.3(KCNT1):c.1032G>A (p.Leu344=) rs1057521705
NM_020822.3(KCNT1):c.1296C>G (p.Leu432=) rs1057524172
NM_020822.3(KCNT1):c.1402-12C>T rs1057521588
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=) rs763089040
NM_020822.3(KCNT1):c.150C>A (p.Ala50=) rs761304952
NM_020822.3(KCNT1):c.1619+20_1619+27del rs1064795535
NM_020822.3(KCNT1):c.1620-15_1620-5del rs761464076
NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu) rs1588359968
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2184G>C (p.Leu728=) rs1057522862
NM_020822.3(KCNT1):c.2235C>G (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2350-17C>G rs1057522624
NM_020822.3(KCNT1):c.2350-40CAGCCCTGACTC[3] rs374463149
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.2523-7C>T rs1287735480
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.254+20delinsGGC rs1554763415
NM_020822.3(KCNT1):c.255-16CT[2] rs760287830
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2841+9C>A rs1057523993
NM_020822.3(KCNT1):c.2842-18G>A rs572059153
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) rs1318262895
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=) rs1554779778
NM_020822.3(KCNT1):c.2944-3C>T rs1554779944
NM_020822.3(KCNT1):c.2944-52CTCC[10] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[5] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[6] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.3178-26GCCCT[3] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[5] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3450C>A (p.Ser1150=) rs757210594
NM_020822.3(KCNT1):c.3495C>A (p.Thr1165=) rs374429090
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3587+20T>G rs374412920
NM_020822.3(KCNT1):c.3612G>A (p.Leu1204=) rs1554782422
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.435-18C>T rs1057523539
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.541-16C>G rs369006830
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.618G>T (p.Gln206His) rs958688368
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.854+7G>A rs1298118251
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.86T>G (p.Phe29Cys)

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