ClinVar Miner

Variants in gene KCNT1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 66
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HGVS dbSNP gnomAD frequency
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.2944-19T>C rs759060806 0.12219
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
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.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.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.3383C>T (p.Ala1128Val) rs143704418 0.00182
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.985C>T (p.Leu329=) rs147165522 0.00093
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.942C>T (p.Thr314=) rs144766991 0.00075
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.1726G>A (p.Glu576Lys) rs147306623 0.00048
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.3681C>T (p.Pro1227=) rs149049198 0.00034
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353 0.00032
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
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.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.2944-52CTCC[4] 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.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274

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