ClinVar Miner

Variants in gene KCNT1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1804 262 0 79 72 1 8 146

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 12 4 0 0 0 0
likely pathogenic 12 0 5 0 0 0 0
uncertain significance 5 6 0 67 16 1 1
likely benign 0 0 66 0 67 0 0
benign 0 0 15 67 0 0 0

All variants with conflicting interpretations #

Total variants: 146
Download table as spreadsheet
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.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.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.2070C>T (p.Gly690=) rs370155559 0.00041
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.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.1338-3C>T rs369562243 0.00031
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.1928G>A (p.Arg643Gln) rs141281093 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.637G>A (p.Val213Ile) rs143536408 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
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.1899G>A (p.Ser633=) rs371135108 0.00012
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
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.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.2594+7C>T rs545094921 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 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.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
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.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
Single allele

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