ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 457
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HGVS dbSNP
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.12:g.(?_135769927)_(135792181_?)dup
NC_000009.12:g.(?_135775290)_(135788182_?)del
NC_000009.12:g.(?_135786177)_(135792181_?)del
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys) rs1131691442
NM_020822.3(KCNT1):c.1035+1G>A
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=)
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) rs778405770
NM_020822.3(KCNT1):c.110+1G>C rs780331569
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
NM_020822.3(KCNT1):c.111-2A>T
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly) rs1588255201
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn)
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile)
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg)
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=)
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
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.1253G>A (p.Arg418Lys) rs886043301
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
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.1396G>A (p.Ala466Thr)
NM_020822.3(KCNT1):c.1401+3G>T rs1564367303
NM_020822.3(KCNT1):c.1402-6C>T rs755796820
NM_020822.3(KCNT1):c.1402-8C>T
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr)
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) rs1245114972
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) rs778483249
NM_020822.3(KCNT1):c.1510+3G>A
NM_020822.3(KCNT1):c.1510+4C>T rs554828530
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.1511-5C>T rs546333402
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser)
NM_020822.3(KCNT1):c.1619+19G>A
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys)
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
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) rs567764094
NM_020822.3(KCNT1):c.1652G>T (p.Arg551Leu) rs567764094
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys)
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr)
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr)
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1720del (p.Glu574fs) rs1131691382
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys)
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg)
NM_020822.3(KCNT1):c.1769+6G>A
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=)
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn)
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser) rs1330106369
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr) rs1554775058
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn)
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu)
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His)
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu)
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys) rs1564371427
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.1946C>G (p.Ser649Trp)
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg)
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu)
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
NM_020822.3(KCNT1):c.195_254+851del
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140
NM_020822.3(KCNT1):c.1975del (p.Arg659fs)
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu)
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val)
NM_020822.3(KCNT1):c.2008+10G>C rs752453368
NM_020822.3(KCNT1):c.2009-2A>G
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser)
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala)
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser)
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln)
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) rs755348603
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr)
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile)
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu)
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del)
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del)
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2226G>C (p.Glu742Asp) rs754932579
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe)
NM_020822.3(KCNT1):c.2244-10C>T
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) rs775923151
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser) rs761987610
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala)
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.2350-3C>T
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val)
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg)
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met)
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu)
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val)
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met)
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp)
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
NM_020822.3(KCNT1):c.2468C>T (p.Ala823Val)
NM_020822.3(KCNT1):c.247G>C (p.Asp83His) rs774085172
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val)
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met) rs753584318
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del)
NM_020822.3(KCNT1):c.2522+3G>A rs1588381370
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.254+10G>C rs772892562
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe)
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2594+7C>T rs545094921
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
NM_020822.3(KCNT1):c.2605C>G (p.Leu869Val) rs1564382343
NM_020822.3(KCNT1):c.2641G>T (p.Val881Leu) rs1564382426
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
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.2728C>T (p.Arg910Trp)
NM_020822.3(KCNT1):c.2729+5G>A
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys)
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) rs1554778336
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) rs1564383774
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn)
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) rs1318262895
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu) rs997774104
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser)
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr)
NM_020822.3(KCNT1):c.2913C>T (p.Ser971=) rs1340916778
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met) rs1465054757
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
NM_020822.3(KCNT1):c.2957_2958insT (p.Tyr987fs) rs886042435
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
NM_020822.3(KCNT1):c.2977C>A (p.Arg993=) rs368252006
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln)
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp)
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951
NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys) rs372775166
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser)
NM_020822.3(KCNT1):c.3027+12T>C rs886043446
NM_020822.3(KCNT1):c.3027+1G>A
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
NM_020822.3(KCNT1):c.3028-5T>G
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr)
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg)
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His)
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp) rs772472766
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del)
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter)
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
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.3173C>T (p.Ala1058Val)
NM_020822.3(KCNT1):c.3177_3177+22dup
NM_020822.3(KCNT1):c.3178-3C>T rs1564393740
NM_020822.3(KCNT1):c.3178-5_3178-1dup
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr) rs1588407407
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser) rs781225639
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) rs747837141
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser)
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro)
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=) rs948170691
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp)
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) rs996610690
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro) rs561255614
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) rs756256138
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn) rs1588407944
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg)
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp)
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr)
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln) rs1588309597
NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg)
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His)
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
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.3431C>G (p.Ser1144Cys)
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe)
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) rs750176430
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.3(KCNT1):c.3467G>A (p.Arg1156His)
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)
NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile) rs1085307807
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile)
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser)
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3502+1617C>G rs1588412829
NM_020822.3(KCNT1):c.3502+2dup
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val)
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys)
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val)
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile)
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu)
NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu)
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu)
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys)
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser)
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995
NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr) rs777322392
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.35dup (p.Val13fs)
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu)
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr)
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met) rs766339368
NM_020822.3(KCNT1):c.3629G>A (p.Ser1210Asn)
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.3640C>T (p.Arg1214Trp)
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg)
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg)
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) rs771068120
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.3694G>A (p.Glu1232Lys) rs138109494
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.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.429C>A (p.Ile143=)
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg)
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr)
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys)
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237
NM_020822.3(KCNT1):c.510G>A (p.Val170=) rs1588317755
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
NM_020822.3(KCNT1):c.547G>A (p.Val183Met)
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser)
NM_020822.3(KCNT1):c.553A>G (p.Ile185Val)
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met)
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864
NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg) rs1429039180
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.600+5G>A rs770367654
NM_020822.3(KCNT1):c.600+9C>T rs1287458024
NM_020822.3(KCNT1):c.626G>A (p.Arg209His) rs756952430
NM_020822.3(KCNT1):c.627C>T (p.Arg209=)
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys) rs551930493
NM_020822.3(KCNT1):c.670A>G (p.Ile224Val) rs1554770959
NM_020822.3(KCNT1):c.673A>G (p.Thr225Ala) rs1554770961
NM_020822.3(KCNT1):c.675+4G>C rs794727929
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063
NM_020822.3(KCNT1):c.704del (p.Phe235fs)
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs)
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val)
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.3(KCNT1):c.852G>A (p.Thr284=) rs773023899
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901
NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp)
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
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.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu)
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
Single allele

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