ClinVar Miner

List of variants in gene KCNT1 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 452
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HGVS dbSNP
NC_000009.12:g.135702113A>T
NC_000009.12:g.135759397del
NC_000009.12:g.135766057_135766070del
NC_000009.12:g.135777298_135777309del
NC_000009.12:g.135786187_135786196dup
NM_020822.3(KCNT1):c.*13C>T rs373376689
NM_020822.3(KCNT1):c.-16C>T rs562987416
NM_020822.3(KCNT1):c.-1C>A rs149383208
NM_020822.3(KCNT1):c.-27C>T rs550838618
NM_020822.3(KCNT1):c.-38C>T rs943933167
NM_020822.3(KCNT1):c.-40C>T
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) rs540422455
NM_020822.3(KCNT1):c.1032G>A (p.Leu344=) rs1057521705
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys) rs1131691442
NM_020822.3(KCNT1):c.1035+292C>T
NM_020822.3(KCNT1):c.1036-12T>G rs113079797
NM_020822.3(KCNT1):c.1036-15G>A rs112341167
NM_020822.3(KCNT1):c.1036-160G>T
NM_020822.3(KCNT1):c.1036-168C>G
NM_020822.3(KCNT1):c.1036-170A>G
NM_020822.3(KCNT1):c.1036-205G>T
NM_020822.3(KCNT1):c.1036-206G>A
NM_020822.3(KCNT1):c.1036-207C>T
NM_020822.3(KCNT1):c.1036-233C>T
NM_020822.3(KCNT1):c.1036-39A>G
NM_020822.3(KCNT1):c.1036-94T>C
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849
NM_020822.3(KCNT1):c.1061T>G (p.Met354Arg) rs1057522923
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.110+154G>A
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1200+12T>G rs58604946
NM_020822.3(KCNT1):c.1200+130T>C
NM_020822.3(KCNT1):c.1200+15C>T rs138631641
NM_020822.3(KCNT1):c.1200+16G>A rs542132567
NM_020822.3(KCNT1):c.1200+177_1200+196del
NM_020822.3(KCNT1):c.1200+68A>G
NM_020822.3(KCNT1):c.1201-16T>C rs1057521711
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.123G>C (p.Ala41=)
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) rs397515402
NM_020822.3(KCNT1):c.1296C>G (p.Leu432=) rs1057524172
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306
NM_020822.3(KCNT1):c.1337+121A>C
NM_020822.3(KCNT1):c.1337+16C>T rs369329858
NM_020822.3(KCNT1):c.1337+17G>A rs780243563
NM_020822.3(KCNT1):c.1337+198T>C
NM_020822.3(KCNT1):c.1337+29A>G
NM_020822.3(KCNT1):c.1337+7G>A rs374975940
NM_020822.3(KCNT1):c.1337+81G>A
NM_020822.3(KCNT1):c.1338-219G>A
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1338-56G>A
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376
NM_020822.3(KCNT1):c.1401+29G>A
NM_020822.3(KCNT1):c.1402-12C>T rs1057521588
NM_020822.3(KCNT1):c.1402-5G>A rs573411729
NM_020822.3(KCNT1):c.1402-64C>T
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1426T>C (p.Trp476Arg) rs886039397
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=) rs763089040
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.3(KCNT1):c.1496A>G (p.His499Arg) rs1554774362
NM_020822.3(KCNT1):c.150C>A (p.Ala50=) rs761304952
NM_020822.3(KCNT1):c.1510+163T>C
NM_020822.3(KCNT1):c.1510+163_1510+202del
NM_020822.3(KCNT1):c.1510+183T>A
NM_020822.3(KCNT1):c.1510+183_1510+222del
NM_020822.3(KCNT1):c.1510+206_1510+245del
NM_020822.3(KCNT1):c.1510+251C>T
NM_020822.3(KCNT1):c.1510+265A>G
NM_020822.3(KCNT1):c.1510+270A>G
NM_020822.3(KCNT1):c.1510+307T>C
NM_020822.3(KCNT1):c.1510+321C>T
NM_020822.3(KCNT1):c.1510+80C>T
NM_020822.3(KCNT1):c.1510+96A>G
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1511-4G>A rs368480443
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=) rs756721305
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173
NM_020822.3(KCNT1):c.1619+18C>T rs183348093
NM_020822.3(KCNT1):c.1619+20_1619+27del rs1064795535
NM_020822.3(KCNT1):c.1619+38C>T
NM_020822.3(KCNT1):c.1619+45G>A
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1620-15_1620-5del rs761464076
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1620-16C>G rs369334561
NM_020822.3(KCNT1):c.1620-17C>T rs376069264
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1720del (p.Glu574fs) rs1131691382
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1769+172G>T
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+67T>G
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1769+8C>T rs371287985
NM_020822.3(KCNT1):c.1769+98G>A
NM_020822.3(KCNT1):c.1770-116C>A
NM_020822.3(KCNT1):c.1770-15G>A rs746828967
NM_020822.3(KCNT1):c.1770-16C>T rs192658955
NM_020822.3(KCNT1):c.1770-20T>C
NM_020822.3(KCNT1):c.1770-34G>T
NM_020822.3(KCNT1):c.1770-42G>A
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.1779G>A (p.Val593=)
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr) rs1554775058
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
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.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1962C>T (p.His654=)
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270
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.1998C>T (p.Ile666=) rs368777569
NM_020822.3(KCNT1):c.2008+10G>C rs752453368
NM_020822.3(KCNT1):c.2008+114T>C
NM_020822.3(KCNT1):c.2008+115G>A
NM_020822.3(KCNT1):c.2008+18C>T rs370292952
NM_020822.3(KCNT1):c.2008+19G>A rs369119562
NM_020822.3(KCNT1):c.2008+20C>T rs371649094
NM_020822.3(KCNT1):c.2008+215G>A
NM_020822.3(KCNT1):c.2008+21G>A
NM_020822.3(KCNT1):c.2008+238A>G
NM_020822.3(KCNT1):c.2008+7C>T rs372707698
NM_020822.3(KCNT1):c.2008+9G>T rs375088109
NM_020822.3(KCNT1):c.2009-206G>A
NM_020822.3(KCNT1):c.2009-222G>A
NM_020822.3(KCNT1):c.2009-39G>A
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.2048C>A (p.Pro683His) rs1411700632
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=) rs748229745
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=)
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=)
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802
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.2184G>C (p.Leu728=) rs1057522862
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
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.2220C>G (p.Asp740Glu) rs148162797
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960
NM_020822.3(KCNT1):c.2235C>G (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618
NM_020822.3(KCNT1):c.2243+172C>T
NM_020822.3(KCNT1):c.2243+277A>T
NM_020822.3(KCNT1):c.2243+328G>A
NM_020822.3(KCNT1):c.2243+56G>A
NM_020822.3(KCNT1):c.2244-184G>A
NM_020822.3(KCNT1):c.2244-217T>C
NM_020822.3(KCNT1):c.2244-309T>C
NM_020822.3(KCNT1):c.2244-327C>T
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995
NM_020822.3(KCNT1):c.2278A>T (p.Ile760Phe) rs1064795013
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser) rs761987610
NM_020822.3(KCNT1):c.2349+148A>G
NM_020822.3(KCNT1):c.2349+20C>T rs375666062
NM_020822.3(KCNT1):c.2349+269C>T
NM_020822.3(KCNT1):c.2349+301G>A
NM_020822.3(KCNT1):c.2349+319C>A
NM_020822.3(KCNT1):c.2349+325_2349+326insA
NM_020822.3(KCNT1):c.2349+326G>T
NM_020822.3(KCNT1):c.2349+59T>C
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2350-109A>G
NM_020822.3(KCNT1):c.2350-10C>T rs367855961
NM_020822.3(KCNT1):c.2350-17C>G rs1057522624
NM_020822.3(KCNT1):c.2350-189G>A
NM_020822.3(KCNT1):c.2350-40CAGCCCTGACTC[3] rs374463149
NM_020822.3(KCNT1):c.2350-5C>T rs965133345
NM_020822.3(KCNT1):c.2350-8G>A rs371678685
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448
NM_020822.3(KCNT1):c.2522+14G>A rs947043112
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.2523-294C>A
NM_020822.3(KCNT1):c.2523-6C>T rs992509278
NM_020822.3(KCNT1):c.2523-7C>T rs1287735480
NM_020822.3(KCNT1):c.2523-99C>A
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.254+20T>C rs2385007
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.255-164A>G
NM_020822.3(KCNT1):c.255-16CT[2] rs760287830
NM_020822.3(KCNT1):c.255-294G>A
NM_020822.3(KCNT1):c.255-295C>T
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711
NM_020822.3(KCNT1):c.2595-83C>G
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358
NM_020822.3(KCNT1):c.261G>A (p.Gln87=) rs777687658
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=) rs773647691
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.3(KCNT1):c.2677G>A (p.Glu893Lys) rs1554778082
NM_020822.3(KCNT1):c.2688G>C (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) rs142642528
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279
NM_020822.3(KCNT1):c.2729+15C>T rs200624821
NM_020822.3(KCNT1):c.2729+31A>G
NM_020822.3(KCNT1):c.2729+9A>G rs12005420
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2730-15G>A rs539244041
NM_020822.3(KCNT1):c.2730-164_2730-98del
NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) rs1554778336
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2841+10C>T rs765179799
NM_020822.3(KCNT1):c.2841+18G>A rs763792397
NM_020822.3(KCNT1):c.2841+212G>A
NM_020822.3(KCNT1):c.2841+9C>A rs1057523993
NM_020822.3(KCNT1):c.2842-15C>T rs372262576
NM_020822.3(KCNT1):c.2842-18G>A rs572059153
NM_020822.3(KCNT1):c.2842-69A>C
NM_020822.3(KCNT1):c.2842-80C>G
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=) rs1554779778
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.2944-3C>T rs1554779944
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.2944-75C>T
NM_020822.3(KCNT1):c.2944T>C (p.Ser982Pro) rs1057523641
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys) rs372775166
NM_020822.3(KCNT1):c.3027+14G>A rs370564938
NM_020822.3(KCNT1):c.3027+18C>T rs369541323
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3027+19G>A rs778490327
NM_020822.3(KCNT1):c.3028-14T>G rs539727852
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3156+14C>G rs555174141
NM_020822.3(KCNT1):c.3156+15T>C rs910734807
NM_020822.3(KCNT1):c.3157-8C>T rs371874401
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510
NM_020822.3(KCNT1):c.3177+129G>A
NM_020822.3(KCNT1):c.3177+16G>A rs749539780
NM_020822.3(KCNT1):c.3177+67A>T
NM_020822.3(KCNT1):c.3178-16G>T rs55906268
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=) rs747248633
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534
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.3288C>T (p.Gly1096=)
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614
NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro) rs561255614
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253
NM_020822.3(KCNT1):c.334+10G>A rs185209587
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077
NM_020822.3(KCNT1):c.335-16G>A rs151217665
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074
NM_020822.3(KCNT1):c.3450C>A (p.Ser1150=) rs757210594
NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile) rs1085307807
NM_020822.3(KCNT1):c.3495C>A (p.Thr1165=) rs374429090
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.3(KCNT1):c.3502+12C>T rs367727105
NM_020822.3(KCNT1):c.3502+16G>A rs112116686
NM_020822.3(KCNT1):c.3502+17C>T rs767500906
NM_020822.3(KCNT1):c.3502+18G>A rs374991913
NM_020822.3(KCNT1):c.3503-15C>T rs373596158
NM_020822.3(KCNT1):c.3503-18C>T rs373901872
NM_020822.3(KCNT1):c.3503-67G>A
NM_020822.3(KCNT1):c.3503-68T>C
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905
NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr) rs777322392
NM_020822.3(KCNT1):c.3587+14G>A rs765545901
NM_020822.3(KCNT1):c.3587+20T>G rs374412920
NM_020822.3(KCNT1):c.3587+3G>A
NM_020822.3(KCNT1):c.3587+63T>C
NM_020822.3(KCNT1):c.3587+71C>T
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824
NM_020822.3(KCNT1):c.3609C>G (p.Pro1203=) rs767668014
NM_020822.3(KCNT1):c.3612G>A (p.Leu1204=) rs1554782422
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
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.434+10G>A rs187872786
NM_020822.3(KCNT1):c.434+15C>T rs778629667
NM_020822.3(KCNT1):c.434+19C>T rs772750955
NM_020822.3(KCNT1):c.434+25C>A
NM_020822.3(KCNT1):c.434+269G>A
NM_020822.3(KCNT1):c.435-17G>A rs140115987
NM_020822.3(KCNT1):c.435-18C>T rs1057523539
NM_020822.3(KCNT1):c.435-257G>C
NM_020822.3(KCNT1):c.435-67C>T
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509
NM_020822.3(KCNT1):c.492-86C>T
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737
NM_020822.3(KCNT1):c.534G>C (p.Ala178=)
NM_020822.3(KCNT1):c.541-16C>G rs369006830
NM_020822.3(KCNT1):c.541-225C>T
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.59G>C (p.Gly20Ala) rs146292575
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.601-13C>G rs202113794
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408
NM_020822.3(KCNT1):c.670A>G (p.Ile224Val) rs1554770959
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596
NM_020822.3(KCNT1):c.759+13G>A rs375237065
NM_020822.3(KCNT1):c.759+6C>T rs1057522462
NM_020822.3(KCNT1):c.760-110_760-109insACAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGTAGGCTGCCCCGTGGGCCTCAGCCGAGAC
NM_020822.3(KCNT1):c.760-138C>T
NM_020822.3(KCNT1):c.760-139A>G
NM_020822.3(KCNT1):c.760-189_760-98del
NM_020822.3(KCNT1):c.760-19G>A rs375929015
NM_020822.3(KCNT1):c.760-231G>A
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.841C>A (p.Leu281Ile) rs1057522914
NM_020822.3(KCNT1):c.854+10G>A rs146470183
NM_020822.3(KCNT1):c.854+7G>A rs1298118251
NM_020822.3(KCNT1):c.854+9C>T rs370686981
NM_020822.3(KCNT1):c.855-10G>A rs1057521940
NM_020822.3(KCNT1):c.855-43A>G
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956

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