ClinVar Miner

List of variants in gene KCNMA1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.3016+1137A>C rs2395443 0.99879
NM_001161352.2(KCNMA1):c.1223+289G>A rs1871066 0.92680
NM_001161352.2(KCNMA1):c.2360+63T>C rs2288837 0.81911
NM_001161352.2(KCNMA1):c.2484+249C>G rs3816025 0.79865
NM_001161352.2(KCNMA1):c.2485-178G>A rs1907715 0.79407
NM_001161352.2(KCNMA1):c.3343-275A>G rs2288839 0.78794
NM_001161352.2(KCNMA1):c.3016+1054C>A rs2395444 0.67163
NM_001161352.2(KCNMA1):c.3343-72G>A rs2288840 0.64863
NM_001161352.2(KCNMA1):c.2015+37C>T rs16934182 0.55282
NC_000010.11:g.77637916G>A rs2720006 0.48874
NM_001161352.2(KCNMA1):c.2484+2001T>C rs7086746 0.43529
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.809-137T>C rs7907270 0.37923
NM_001161352.2(KCNMA1):c.808+164T>C rs12767900 0.26841
NM_001161352.2(KCNMA1):c.2485-79C>T rs12770084 0.24013
NM_001161352.2(KCNMA1):c.3016+554G>A rs11001928 0.22831
NM_001161352.2(KCNMA1):c.696+281T>C rs34536108 0.22245
NM_001161352.2(KCNMA1):c.2484+291C>T rs12773532 0.21778
NM_001161352.2(KCNMA1):c.2485-191A>G rs12771435 0.21187
NM_001161352.2(KCNMA1):c.378+560G>A rs12217221 0.16780
NM_001161352.2(KCNMA1):c.3461+237C>T rs11001919 0.16342
NM_001161352.2(KCNMA1):c.1335-254A>G rs12354965 0.13167
NM_001161352.2(KCNMA1):c.960+157C>A rs1347543 0.10439
NM_001161352.2(KCNMA1):c.1860-225A>G rs56176748 0.06047
NM_001161352.2(KCNMA1):c.1594-60A>G rs2274416 0.05856
NM_001161352.2(KCNMA1):c.1524-76G>T rs45495698 0.05829
NM_001161352.2(KCNMA1):c.603-123del rs150813973 0.05581
NM_001161352.2(KCNMA1):c.884+195T>C rs77231005 0.05340
NM_001161352.2(KCNMA1):c.1224-170G>A rs2296676 0.05322
NM_001161352.2(KCNMA1):c.3147+149A>G rs16934014 0.04722
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001161352.2(KCNMA1):c.378+302G>A rs76903211 0.02905
NM_001161352.2(KCNMA1):c.2016-208C>A rs73288598 0.02900
NM_001161352.2(KCNMA1):c.602+59T>C rs45602845 0.02573
NM_001161352.2(KCNMA1):c.1224-165T>A rs61586527 0.02194
NM_001161352.2(KCNMA1):c.1860-236A>C rs10824484 0.02180
NM_001161352.2(KCNMA1):c.960+48C>A rs12355548 0.02175
NM_001161352.2(KCNMA1):c.1224-52G>C rs11002011 0.02160
NM_001161352.2(KCNMA1):c.3016+83T>C rs75628904 0.01877
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_001161352.2(KCNMA1):c.2361-215G>C rs77994616 0.01713
NM_001161352.2(KCNMA1):c.1440+169G>C rs73290372 0.01388
NM_001161352.2(KCNMA1):c.2484+1307G>A rs111332131 0.01375
NM_001161352.2(KCNMA1):c.697-100A>G rs41274576 0.01327
NM_001161352.2(KCNMA1):c.3342+144T>C rs77591460 0.01309
NM_001161352.2(KCNMA1):c.3148-34A>G rs112120932 0.01307
NM_001161352.2(KCNMA1):c.*321C>T rs7078702 0.01265
NM_001161352.2(KCNMA1):c.1928+2542A>G rs545506676 0.01193
NM_001161352.2(KCNMA1):c.2015+38G>A rs74140254 0.01186
NM_001161352.2(KCNMA1):c.2485-337A>G rs73282582 0.01180
NM_001161352.2(KCNMA1):c.2485-41C>T rs79866794 0.01040
NM_001161352.2(KCNMA1):c.378+771G>C rs139968359 0.01007
NM_001161352.2(KCNMA1):c.3016+339T>C rs113343323 0.00983
NM_001161352.2(KCNMA1):c.3462-46T>C rs79626673 0.00965
NM_001161352.2(KCNMA1):c.2360+97C>T rs145975680 0.00918
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_001161352.2(KCNMA1):c.3016+1103C>T rs80018326 0.00868
NM_001161352.2(KCNMA1):c.541-69A>G rs114938548 0.00782
NM_001161352.2(KCNMA1):c.1859+64A>G rs77765592 0.00716
NM_001161352.2(KCNMA1):c.809-28T>G rs78403702 0.00702
NM_001161352.2(KCNMA1):c.961-68G>A rs73291905 0.00692
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.1131+41G>T rs75389547 0.00630
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.1594-154G>A rs116122608 0.00566
NM_001161352.2(KCNMA1):c.3147+277G>A rs80033559 0.00530
NM_001161352.2(KCNMA1):c.885-37G>C rs182424455 0.00484
NM_001161352.2(KCNMA1):c.961-30C>G rs76745716 0.00484
NM_001161352.2(KCNMA1):c.3147+291A>T rs552208552 0.00483
NM_001161352.2(KCNMA1):c.1224-197C>T rs146636840 0.00467
NM_001161352.2(KCNMA1):c.3017-330A>C rs11001927 0.00466
NM_001161352.2(KCNMA1):c.960+283del rs375872842 0.00409
NM_001161352.2(KCNMA1):c.961-115G>A rs7090036 0.00406
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001161352.2(KCNMA1):c.1860-151C>T rs116144202 0.00334
NM_001161352.2(KCNMA1):c.2361-304G>A rs149708794 0.00331
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_001161352.2(KCNMA1):c.*394C>A rs41281550 0.00287
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001161352.2(KCNMA1):c.2015+161T>C rs191535587 0.00263
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001161352.2(KCNMA1):c.961-13C>G rs201400753 0.00148
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068 0.00145
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686 0.00142
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) rs138823071 0.00091
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) rs200608314 0.00060
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540 0.00045
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577 0.00033
NM_001161352.2(KCNMA1):c.2267-4486C>T rs188354139 0.00032
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047 0.00031
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) rs76141718 0.00026
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) rs80266334 0.00019
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262 0.00017
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902 0.00012
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00012
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000 0.00011
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) rs113441525 0.00011
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948 0.00010
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 0.00009
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) rs373620901 0.00009
NM_001161352.2(KCNMA1):c.2484+1682T>C rs201985454 0.00009
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233 0.00009
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843 0.00007
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) rs201924445 0.00007
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) rs755284666 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=) rs111630810 0.00006
NM_001161352.2(KCNMA1):c.2499T>C (p.Ala833=) rs771436196 0.00006
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913 0.00006
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser) rs549360933 0.00006
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408 0.00005
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=) rs200321180 0.00004
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) rs75843969 0.00004
NM_001161352.2(KCNMA1):c.378+834G>A rs930939657 0.00004
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) rs201765039 0.00004
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241 0.00004
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) rs145604644 0.00004
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=) rs781404437 0.00003
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) rs368568833 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=) rs767100016 0.00003
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) rs587780363 0.00003
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) rs75573826 0.00003
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) rs200714367 0.00003
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) rs201192736 0.00003
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234 0.00003
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) rs762346849 0.00002
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416 0.00002
NM_001161352.2(KCNMA1):c.1928+10C>T rs200921631 0.00002
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569 0.00002
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) rs764912308 0.00002
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) rs779632278 0.00002
NM_001161352.2(KCNMA1):c.3462-10C>T rs559764920 0.00002
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) rs199568153 0.00002
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) rs200410171 0.00002
NM_001161352.2(KCNMA1):c.1224-6G>A rs370838557 0.00001
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=) rs762789995 0.00001
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) rs760442123 0.00001
NM_001161352.2(KCNMA1):c.2021T>A (p.Phe674Tyr) rs755126695 0.00001
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) rs544095112 0.00001
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=) rs779629574 0.00001
NM_001161352.2(KCNMA1):c.2484+33G>A rs201892905 0.00001
NM_001161352.2(KCNMA1):c.2484+9G>C rs767569709 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met) rs751748880 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) rs1298795044 0.00001
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser) rs1395464276 0.00001
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) rs1314238418 0.00001
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097 0.00001
NM_001161352.2(KCNMA1):c.3342+10C>T rs752873857 0.00001
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) rs200284976 0.00001
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218 0.00001
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) rs985517880 0.00001
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) rs1370349180 0.00001
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile) rs1002138627 0.00001
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=) rs779927857 0.00001
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=) rs200015007 0.00001
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=) rs200815735 0.00001
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) rs888320237 0.00001
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) rs2093893902 0.00001
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=) rs1486636115 0.00001
GRCh37/hg19 10q22.3(chr10:79037596-79123321)x1
GRCh37/hg19 10q22.3(chr10:79172158-79238337)x1
GRCh37/hg19 10q22.3(chr10:79187957-79209190)x1
GRCh37/hg19 10q22.3(chr10:79280893-79342926)x1
GRCh37/hg19 10q22.3(chr10:79284201-79351792)x1
NM_001014797.3(KCNMA1):c.3525-6C>A
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.1079C>T (p.Ala360Val)
NM_001161352.2(KCNMA1):c.1088C>T (p.Thr363Ile)
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
NM_001161352.2(KCNMA1):c.1132-256G>T rs2574790
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1181G>T (p.Arg394Leu)
NM_001161352.2(KCNMA1):c.1223+35C>T rs45459294
NM_001161352.2(KCNMA1):c.1223+59dup rs35119991
NM_001161352.2(KCNMA1):c.1223+71_1223+73del rs35119991
NM_001161352.2(KCNMA1):c.1223+72_1223+73del rs35119991
NM_001161352.2(KCNMA1):c.123C>A (p.Ser41=) rs1064797146
NM_001161352.2(KCNMA1):c.127T>A (p.Ser43Thr) rs1057519135
NM_001161352.2(KCNMA1):c.1334+146G>A rs12251114
NM_001161352.2(KCNMA1):c.1334+325C>A rs142127442
NM_001161352.2(KCNMA1):c.1353G>A (p.Glu451=) rs1595665771
NM_001161352.2(KCNMA1):c.1385A>T (p.Gln462Leu)
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) rs794726903
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.1440+2del
NM_001161352.2(KCNMA1):c.1441-10G>A
NM_001161352.2(KCNMA1):c.1441-114dup rs34592624
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1456G>A (p.Ala486Thr)
NM_001161352.2(KCNMA1):c.1483T>C (p.Cys495Arg)
NM_001161352.2(KCNMA1):c.1486G>T (p.Ala496Ser)
NM_001161352.2(KCNMA1):c.1498G>A (p.Ala500Thr)
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del) rs778736171
NM_001161352.2(KCNMA1):c.1593+78AC[16] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[18] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[19] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[20] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[21] rs68133946
NM_001161352.2(KCNMA1):c.1593+78AC[22] rs68133946
NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val)
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) rs974940310
NM_001161352.2(KCNMA1):c.1675A>G (p.Ile559Val)
NM_001161352.2(KCNMA1):c.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1751T>C (p.Ile584Thr)
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) rs2093880726
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) rs1440636763
NM_001161352.2(KCNMA1):c.1860-215T>C rs80068633
NM_001161352.2(KCNMA1):c.1870G>A (p.Val624Met) rs2153527454
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) rs1555142864
NM_001161352.2(KCNMA1):c.1918C>T (p.Arg640Ter) rs1407652513
NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del rs146836316
NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del rs199665732
NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del rs1326731759
NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del rs1234471076
NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del rs1275639354
NM_001161352.2(KCNMA1):c.1928+2580AC[4] rs199865838
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.1957A>G (p.Lys653Glu) rs2153480907
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=) rs201919794
NM_001161352.2(KCNMA1):c.1A>C (p.Met1Leu)
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) rs2153454278
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) rs2153454235
NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del rs67958938
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys)
NM_001161352.2(KCNMA1):c.2266+206G>A rs11001963
NM_001161352.2(KCNMA1):c.2266+213G>A rs12263556
NM_001161352.2(KCNMA1):c.2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-264_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-265_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-266_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-267_2267-263del rs10563488
NM_001161352.2(KCNMA1):c.2267-7T>C rs1592309833
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=) rs778997353
NM_001161352.2(KCNMA1):c.2326C>T (p.Arg776Trp)
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
NM_001161352.2(KCNMA1):c.2360+133G>A rs149898820
NM_001161352.2(KCNMA1):c.237C>G (p.Cys79Trp) rs2154572129
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) rs2152988601
NM_001161352.2(KCNMA1):c.2476G>C (p.Val826Leu)
NM_001161352.2(KCNMA1):c.2484+1659G>A
NM_001161352.2(KCNMA1):c.2484+1764G>A
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del)
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) rs150678882
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val)
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val)
NM_001161352.2(KCNMA1):c.2662C>T (p.Arg888Trp)
NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)
NM_001161352.2(KCNMA1):c.2710-19dup rs112408409
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) rs2152885532
NM_001161352.2(KCNMA1):c.27_37delinsTGGCGGCGGCGGCGGCGGCAGCA (p.Ser11_Gly13delinsGlyGlyGlyGlyGlySerSer)
NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val)
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp) rs1064797144
NM_001161352.2(KCNMA1):c.2914C>T (p.Pro972Ser) rs794727378
NM_001161352.2(KCNMA1):c.2986G>T (p.Gly996Trp) rs2152435439
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr) rs1590436024
NM_001161352.2(KCNMA1):c.3016+1119C>T rs113649310
NM_001161352.2(KCNMA1):c.3016+73G>T rs2288838
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.3131A>G (p.Asp1044Gly) rs2152363858
NM_001161352.2(KCNMA1):c.3147+8A>G
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
NM_001161352.2(KCNMA1):c.3280A>G (p.Asn1094Asp)
NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn)
NM_001161352.2(KCNMA1):c.3347G>C (p.Gly1116Ala)
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe)
NM_001161352.2(KCNMA1):c.3387A>G (p.Thr1129=) rs1589612030
NM_001161352.2(KCNMA1):c.3415C>T (p.Arg1139Trp) rs2151798038
NM_001161352.2(KCNMA1):c.3425A>G (p.Asp1142Gly)
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) rs1253143924
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
NM_001161352.2(KCNMA1):c.34del (p.Ser12fs) rs2154572205
NM_001161352.2(KCNMA1):c.3514A>G (p.Ile1172Val)
NM_001161352.2(KCNMA1):c.3514A>T (p.Ile1172Phe) rs2037607195
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
NM_001161352.2(KCNMA1):c.3579C>T (p.Ser1193=)
NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr)
NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val)
NM_001161352.2(KCNMA1):c.3637G>A (p.Ala1213Thr) rs2151705433
NM_001161352.2(KCNMA1):c.3653G>T (p.Arg1218Leu)
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) rs199766376
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) rs2093865429
NM_001161352.2(KCNMA1):c.369del (p.Lys124fs) rs1603639319
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.378+398C>A rs2154571992
NM_001161352.2(KCNMA1):c.378+470A>G rs2093792504
NM_001161352.2(KCNMA1):c.378+621del rs35528388
NM_001161352.2(KCNMA1):c.378+767C>T
NM_001161352.2(KCNMA1):c.378+76G>T rs112948235
NM_001161352.2(KCNMA1):c.378+792_378+793dup rs2154571925
NM_001161352.2(KCNMA1):c.378+808C>A rs116144703
NM_001161352.2(KCNMA1):c.378+878del
NM_001161352.2(KCNMA1):c.379-103A>G rs11002158
NM_001161352.2(KCNMA1):c.379-86C>G rs596832
NM_001161352.2(KCNMA1):c.379-89848G>A
NM_001161352.2(KCNMA1):c.37_63del (p.Gly13_Ser21del) rs1555528536
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) rs767525618
NM_001161352.2(KCNMA1):c.412G>C (p.Ala138Pro)
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) rs2096371289
NM_001161352.2(KCNMA1):c.527C>G (p.Thr176Ser) rs2154465045
NM_001161352.2(KCNMA1):c.540+1G>A rs2154465020
NM_001161352.2(KCNMA1):c.541-5T>C
NM_001161352.2(KCNMA1):c.585C>T (p.Tyr195=) rs2154251763
NM_001161352.2(KCNMA1):c.66T>A (p.Ser22Arg) rs2154572179
NM_001161352.2(KCNMA1):c.670T>C (p.Phe224Leu) rs2154127757
NM_001161352.2(KCNMA1):c.681C>A (p.Leu227=) rs1598199582
NM_001161352.2(KCNMA1):c.710A>G (p.Asn237Ser) rs2154124882
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.858G>T (p.Leu286Phe)
NM_001161352.2(KCNMA1):c.95A>T (p.Asn32Ile) rs199570594

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