ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance for Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5

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Total variants: 159
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HGVS dbSNP
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.11:g.(?_138667136)_(138680028_?)del
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
NM_020822.3(KCNT1):c.110+1G>C
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly)
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
NM_020822.3(KCNT1):c.1201-5G>A
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg)
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) rs1564370162
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser)
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg)
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu)
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
NM_020822.3(KCNT1):c.2329_2331TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.247G>C (p.Asp83His)
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
NM_020822.3(KCNT1):c.2522+3G>A
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg)
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met)
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp)
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) rs1564392375
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr)
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=)
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln)
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met)
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys)
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.398G>A (p.Arg133His)
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.600+5G>A
NM_020822.3(KCNT1):c.626G>A (p.Arg209His)
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)
NM_020822.3(KCNT1):c.730C>T (p.Leu244=)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) rs376583438
NM_020822.3(KCNT1):c.852G>A (p.Thr284=)
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) rs1060503697
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met)
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)

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