ClinVar Miner

List of variants in gene KCNT1 reported as benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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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.600+59A>C rs59909130 0.57178
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_020822.3(KCNT1):c.434+25C>A rs10122976 0.47340
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.2008+21G>A rs7869884 0.16982
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
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.2142G>A (p.Leu714=) rs370580872 0.00098
NM_020822.3(KCNT1):c.2350-8G>A rs371678685 0.00096
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.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.601-13C>G rs202113794 0.00068
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_020822.3(KCNT1):c.3028-14T>G rs539727852 0.00050
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.-1C>A rs149383208 0.00039
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) rs142642528 0.00034
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198 0.00034
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.2166G>A (p.Leu722=) rs374347802 0.00030
NM_020822.3(KCNT1):c.334+10G>A rs185209587 0.00029
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763 0.00028
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445 0.00027
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.3694G>A (p.Glu1232Lys) rs138109494 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.474G>A (p.Ser158=) rs139076605 0.00019
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=) rs766746716 0.00016
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855 0.00012
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_020822.3(KCNT1):c.1337+16C>T rs369329858 0.00010
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2349+11C>T rs374140862 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.335-16G>A rs151217665 0.00007
NM_020822.3(KCNT1):c.1200+15C>T rs138631641 0.00006
NM_020822.3(KCNT1):c.1201-6C>T rs543464639 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.3502+17C>T rs767500906 0.00005
NM_020822.3(KCNT1):c.676-4A>G rs780921786 0.00005
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=) rs377162900 0.00004
NM_020822.3(KCNT1):c.1188C>T (p.His396=) rs544796091 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020822.3(KCNT1):c.1511-12C>G rs549024643
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2522+15dup
NM_020822.3(KCNT1):c.2523-5del
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
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[9] rs55843930
NM_020822.3(KCNT1):c.3177+12del rs749581375
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[3] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[5] rs757968008
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
NM_020822.3(KCNT1):c.540+23del rs759524379
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.601-13del
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro) rs764163914
NM_020822.3(KCNT1):c.759+18del
NM_020822.3(KCNT1):c.759+18dup

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