ClinVar Miner

List of variants in gene KCNT1 studied for Inborn genetic diseases

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Gene type:
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Total variants: 223
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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.978A>G (p.Pro326=) rs61739517 0.02678
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.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.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.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.2994G>A (p.Leu998=) rs143198263 0.00087
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824 0.00081
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
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.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559 0.00041
NM_020822.3(KCNT1):c.-1C>A rs149383208 0.00039
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.2691G>A (p.Ala897=) rs142642528 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.3555G>T (p.Pro1185=) rs144068763 0.00028
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.2214G>A (p.Pro738=) rs142424896 0.00026
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00026
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser) rs1201438079 0.00026
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 0.00025
NM_020822.3(KCNT1):c.1511-4G>A rs368480443 0.00024
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.1008C>T (p.Cys336=) rs540422455 0.00021
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 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.474G>A (p.Ser158=) rs139076605 0.00019
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=) rs766746716 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448 0.00016
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.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.1182C>T (p.Tyr394=) rs372491855 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.2673C>T (p.Ala891=) rs373503298 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.151G>C (p.Gly51Arg) rs148808978 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.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553 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.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 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.335-4G>A rs372339395 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 0.00005
NM_020822.3(KCNT1):c.335-5C>T rs745658927 0.00005
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.1047C>T (p.Leu349=) rs370414453 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007 0.00004
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905 0.00004
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg) rs142340167 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908 0.00003
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys) rs749302270 0.00003
NM_020822.3(KCNT1):c.2226G>C (p.Glu742Asp) rs754932579 0.00003
NM_020822.3(KCNT1):c.2271G>A (p.Ser757=) rs374981764 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596 0.00003
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) rs928555901 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) rs779903423 0.00002
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) rs756256138 0.00002
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071 0.00002
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His) rs780857518 0.00002
NM_020822.3(KCNT1):c.626G>A (p.Arg209His) rs756952430 0.00002
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544 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.1336A>C (p.Lys446Gln) rs144824627 0.00001
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln) rs141311481 0.00001
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg) rs1446587740 0.00001
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=) rs531712032 0.00001
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met) rs771481255 0.00001
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2349+4A>G rs745399878 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val) rs1306134073 0.00001
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119 0.00001
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=) rs1209287528 0.00001
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe) rs1177972273 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu) rs779379200 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 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.882G>A (p.Arg294=) rs755272136 0.00001
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
NM_020822.3(KCNT1):c.1036-3C>T
NM_020822.3(KCNT1):c.1075T>C (p.Ser359Pro)
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1421G>T (p.Arg474Leu)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg) rs773874266
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) rs1832713510
NM_020822.3(KCNT1):c.1943T>C (p.Phe648Ser)
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2058C>G (p.Ser686Arg)
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2192A>G (p.Gln731Arg)
NM_020822.3(KCNT1):c.2346C>A (p.Asp782Glu)
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=) rs140516977
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe) rs750371003
NM_020822.3(KCNT1):c.3122A>G (p.Tyr1041Cys)
NM_020822.3(KCNT1):c.3178-12_3180dup
NM_020822.3(KCNT1):c.3178-3C>T rs1564393740
NM_020822.3(KCNT1):c.3181C>G (p.Gln1061Glu)
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr) rs1347095932
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.492-3C>A rs1831398385
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr) rs149908455
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val) rs1831515095
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met) rs1429039180
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851

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