ClinVar Miner

List of variants reported as uncertain significance for Congenital long QT syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.-293C>G rs376640553 0.32896
NM_000890.5(KCNJ5):c.-295C>G rs372328307 0.22991
NM_000335.5(SCN5A):c.*2135C>A rs45502793 0.04380
NM_003098.3(SNTA1):c.828G>A (p.Lys276=) rs35938843 0.00969
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_172201.2(KCNE2):c.-52G>A rs41314699 0.00570
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_000890.5(KCNJ5):c.-289G>C rs60658163 0.00389
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=) rs146710448 0.00289
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_033337.3(CAV3):c.*788C>A rs181285740 0.00251
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_174934.4(SCN4B):c.*2497G>A rs181429015 0.00176
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_174934.4(SCN4B):c.*1430G>A rs45548134 0.00154
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_174934.4(SCN4B):c.*3549G>A rs149963368 0.00134
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_000219.6(KCNE1):c.*1556G>A rs886057019 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_174934.4(SCN4B):c.*2137C>G rs565447765 0.00104
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_033337.3(CAV3):c.*763G>A rs185369734 0.00083
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_174934.4(SCN4B):c.*2939G>C rs757631990 0.00077
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) rs61757557 0.00066
NM_000335.5(SCN5A):c.*889C>A rs546849670 0.00063
NM_000335.5(SCN5A):c.*920G>C rs561475141 0.00063
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_174934.4(SCN4B):c.*961A>G rs561492722 0.00058
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_033337.3(CAV3):c.*741G>A rs560215660 0.00050
NM_000335.5(SCN5A):c.*1074C>G rs776171341 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_174934.4(SCN4B):c.*2220G>T rs190737124 0.00044
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_005751.5(AKAP9):c.158A>G (p.His53Arg) rs142125596 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_172201.2(KCNE2):c.-13+5G>A rs786205806 0.00043
NM_033337.3(CAV3):c.*834A>T rs771619043 0.00041
NM_174934.4(SCN4B):c.*2977A>G rs369720674 0.00041
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00040
NM_003098.3(SNTA1):c.*79C>A rs78892511 0.00040
NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg) rs141039834 0.00040
NM_000335.5(SCN5A):c.*160G>A rs772585696 0.00039
NM_000219.6(KCNE1):c.-101A>T rs74706643 0.00038
NM_000335.5(SCN5A):c.*1568G>C rs45503498 0.00038
NM_174934.4(SCN4B):c.*1819C>T rs534802709 0.00036
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_005751.5(AKAP9):c.-160G>A rs764753013 0.00034
NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=) rs146831402 0.00034
NM_172201.2(KCNE2):c.*62G>A rs72550218 0.00034
NM_005751.5(AKAP9):c.9214-6T>C rs377532409 0.00033
NM_174934.4(SCN4B):c.*2196G>A rs769472607 0.00031
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_000219.6(KCNE1):c.-467A>T rs558817846 0.00024
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) rs367857951 0.00024
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) rs786205841 0.00022
NM_033337.3(CAV3):c.*852G>A rs555268992 0.00022
NM_000219.6(KCNE1):c.-530G>A rs886057027 0.00021
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=) rs756398963 0.00021
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.*747G>A rs763830252 0.00020
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_172201.2(KCNE2):c.153G>T (p.Leu51=) rs143767851 0.00019
NM_000219.6(KCNE1):c.*1831C>T rs41314065 0.00016
NM_174934.4(SCN4B):c.*670G>T rs182613927 0.00016
NM_005751.5(AKAP9):c.10221G>A (p.Glu3407=) rs200711005 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_033337.3(CAV3):c.*277G>A rs184247243 0.00014
NM_174934.4(SCN4B):c.*1820G>A rs45539741 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000890.5(KCNJ5):c.-272A>G rs886048007 0.00012
NM_005751.5(AKAP9):c.-107C>T rs886062464 0.00012
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr) rs200844952 0.00011
NM_000218.3(KCNQ1):c.*392A>C rs868129989 0.00010
NM_000219.6(KCNE1):c.*1447C>G rs886057020 0.00010
NM_000219.6(KCNE1):c.*1859G>A rs754021039 0.00010
NM_003098.3(SNTA1):c.-261C>A rs536994978 0.00010
NM_003098.3(SNTA1):c.-262C>T rs550104436 0.00010
NM_000219.6(KCNE1):c.-298C>T rs78250687 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_003098.2(SNTA1):c.-200C>T rs879769686 0.00009
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) rs147841245 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000219.5(KCNE1):c.-605G>A rs780282543 0.00008
NM_174934.3(SCN4B):c.-223G>T rs867824819 0.00008
NM_000218.3(KCNQ1):c.*1055C>T rs375155898 0.00007
NM_000335.5(SCN5A):c.*331T>C rs551399685 0.00007
NM_005751.5(AKAP9):c.9181C>T (p.Leu3061=) rs775991910 0.00007
NM_000219.6(KCNE1):c.*1832C>T rs886057016 0.00006
NM_000335.5(SCN5A):c.*1932C>T rs886058437 0.00006
NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) rs534185372 0.00006
NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=) rs151197146 0.00006
NM_174934.4(SCN4B):c.*449G>A rs67276909 0.00006
NM_174934.4(SCN4B):c.*489T>C rs886047728 0.00006
NM_000218.3(KCNQ1):c.*581T>C rs765566577 0.00005
NM_000335.5(SCN5A):c.*990T>C rs886058448 0.00005
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_005751.5(AKAP9):c.5610T>C (p.His1870=) rs150332727 0.00005
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg) rs775673048 0.00005
NM_174934.4(SCN4B):c.*680C>A rs886047727 0.00005
NM_174934.4(SCN4B):c.-15G>A rs777218649 0.00005
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000218.3(KCNQ1):c.*712G>A rs745447199 0.00004
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00004
NM_000218.3(KCNQ1):c.-38C>T rs886048160 0.00004
NM_000219.5(KCNE1):c.-561C>T rs886057028 0.00004
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000890.5(KCNJ5):c.-285G>C rs886048006 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_005751.5(AKAP9):c.*79T>C rs886062480 0.00004
NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp) rs374280470 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00004
NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr) rs189151663 0.00004
NM_033337.3(CAV3):c.*722G>A rs541417547 0.00004
NM_172201.2(KCNE2):c.-85G>A rs41315511 0.00004
NM_000218.3(KCNQ1):c.*171G>A rs886048168 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000219.6(KCNE1):c.-13C>T rs745925445 0.00003
NM_000335.5(SCN5A):c.*663C>A rs540984871 0.00003
NM_000335.5(SCN5A):c.1800G>A (p.Val600=) rs758101066 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_033337.3(CAV3):c.*592G>A rs187370461 0.00003
NM_172201.2(KCNE2):c.-121C>T rs188625398 0.00003
NM_174934.4(SCN4B):c.-116G>A rs886047733 0.00003
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg) rs750329453 0.00003
NM_000335.5(SCN5A):c.*1087G>A rs886058446 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) rs754648214 0.00002
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) rs771369802 0.00002
NM_003098.3(SNTA1):c.1479C>T (p.Phe493=) rs559827815 0.00002
NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=) rs376961682 0.00002
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) rs886062477 0.00002
NM_172201.2(KCNE2):c.-80C>T rs566735365 0.00002
NM_174934.4(SCN4B):c.*1007G>A rs886047725 0.00002
NM_000218.3(KCNQ1):c.*47A>C rs754931159 0.00001
NM_000218.3(KCNQ1):c.*633G>A rs886048173 0.00001
NM_000218.3(KCNQ1):c.*652G>A rs886048174 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1794+12C>T rs727505084 0.00001
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299 0.00001
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00001
NM_000335.5(SCN5A):c.-53+12C>T rs886058464 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000890.5(KCNJ5):c.*1024A>G rs886048018 0.00001
NM_000890.5(KCNJ5):c.-253G>T rs886048009 0.00001
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010 0.00001
NM_003098.2(SNTA1):c.-251G>A rs886056630 0.00001
NM_003098.3(SNTA1):c.*6G>A rs565582070 0.00001
NM_003098.3(SNTA1):c.-18G>A rs886056628 0.00001
NM_003098.3(SNTA1):c.1181G>A (p.Arg394His) rs750278583 0.00001
NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) rs751302839 0.00001
NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) rs775580363 0.00001
NM_005751.5(AKAP9):c.*462T>A rs886062482 0.00001
NM_005751.5(AKAP9):c.*494G>T rs886062483 0.00001
NM_005751.5(AKAP9):c.-211C>A rs886062463 0.00001
NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=) rs767245893 0.00001
NM_005751.5(AKAP9):c.10901C>G (p.Ser3634Cys) rs768384617 0.00001
NM_005751.5(AKAP9):c.11549A>G (p.Tyr3850Cys) rs751615449 0.00001
NM_005751.5(AKAP9):c.1183A>G (p.Lys395Glu) rs886062467 0.00001
NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) rs755408339 0.00001
NM_005751.5(AKAP9):c.2328G>A (p.Glu776=) rs78221443 0.00001
NM_005751.5(AKAP9):c.3708A>T (p.Glu1236Asp) rs751002727 0.00001
NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys) rs776582090 0.00001
NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) rs769653270 0.00001
NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly) rs780599681 0.00001
NM_005751.5(AKAP9):c.8161-6T>A rs554984079 0.00001
NM_005751.5(AKAP9):c.9170C>A (p.Ala3057Glu) rs764732139 0.00001
NM_033337.3(CAV3):c.*433C>T rs886058916 0.00001
NM_174934.3(SCN4B):c.-204C>G rs886047734 0.00001
NM_174934.4(SCN4B):c.*1193T>C rs886047724 0.00001
NM_174934.4(SCN4B):c.*1343C>T rs886047723 0.00001
NM_174934.4(SCN4B):c.*1810C>T rs200930587 0.00001
NM_174934.4(SCN4B):c.*2080G>T rs375933863 0.00001
NM_174934.4(SCN4B):c.*2268C>T rs886047720 0.00001
NM_174934.4(SCN4B):c.*2487G>C rs886047718 0.00001
NM_174934.4(SCN4B):c.*258T>A rs886047730 0.00001
NM_174934.4(SCN4B):c.*2876T>C rs886047716 0.00001
NM_174934.4(SCN4B):c.*3004G>A rs751855090 0.00001
NM_174934.4(SCN4B):c.*434T>C rs886047729 0.00001
NM_174934.4(SCN4B):c.*868C>A rs549353088 0.00001
NM_000218.3(KCNQ1):c.*1088G>C rs886048177
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*539G>C rs886048171
NM_000218.3(KCNQ1):c.*877C>G rs763163556
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000335.5(SCN5A):c.*1048G>A rs886058447
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*290G>A rs886058457
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*486C>T rs886058455
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*705C>A rs886058452
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.-107G>A rs886058466
NM_000335.5(SCN5A):c.-70C>T rs886058465
NM_000335.5(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2126G>T (p.Gly709Val) rs199473581
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.5972_5973dup (p.Ser1992fs)
NM_000335.5(SCN5A):c.5982C>A (p.Tyr1994Ter) rs794728941
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000335.5(SCN5A):c.863A>G (p.Asn288Ser)
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000890.5(KCNJ5):c.*103G>C rs886048012
NM_000890.5(KCNJ5):c.*1151C>T rs886048019
NM_000890.5(KCNJ5):c.*1323del rs886048020
NM_000890.5(KCNJ5):c.*200C>A rs756204980
NM_000890.5(KCNJ5):c.*228G>T rs886048013
NM_000890.5(KCNJ5):c.*667C>T rs886048014
NM_000890.5(KCNJ5):c.*747A>G rs886048015
NM_000890.5(KCNJ5):c.*861GTTTT[8] rs36205004
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.*978T>G rs886048017
NM_000890.5(KCNJ5):c.-258_-255del rs886048008
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA rs886048005
NM_000890.5(KCNJ5):c.-287G>C rs868130049
NM_000890.5(KCNJ5):c.-289GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289GA[19] rs71057905
NM_000890.5(KCNJ5):c.-289GA[20] rs71057905
NM_000890.5(KCNJ5):c.-291GA[3] rs886048000
NM_000890.5(KCNJ5):c.-291_-286del rs886048002
NM_000890.5(KCNJ5):c.-291_-288del rs886048001
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-293GA[3] rs886047996
NM_000890.5(KCNJ5):c.-293GA[4] rs886047996
NM_000890.5(KCNJ5):c.-293_-288del rs886047997
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-294_-293insGAGA rs886047996
NM_000890.5(KCNJ5):c.-295GA[3] rs886047994
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG rs886047992
NM_000890.5(KCNJ5):c.-301_-291delinsG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-303_-291delinsGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG rs886047987
NM_000890.5(KCNJ5):c.-333CA[24] rs113761140
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_001128840.3(CACNA1D):c.236C>A (p.Ser79Tyr)
NM_001148.6(ANK2):c.10243A>G (p.Thr3415Ala) rs864321653
NM_001167912.2(VEPH1):c.418G>C (p.Gly140Arg)
NM_001267550.2(TTN):c.67271A>G (p.Tyr22424Cys)
NM_001388306.1(MIDN):c.1483G>A (p.Val495Met)
NM_001401501.2(MUC16):c.44440C>T (p.Arg14814Trp)
NM_003098.2(SNTA1):c.-186C>T rs886056629
NM_003098.3(SNTA1):c.-96G>C rs145471317
NM_003098.3(SNTA1):c.1238-13G>C rs748801869
NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr) rs886056627
NM_003098.3(SNTA1):c.651G>A (p.Leu217=) rs886056626
NM_004326.4(BCL9):c.2423A>G (p.Gln808Arg)
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_005549.2(KCNA10):c.682A>G (p.Ile228Val)
NM_005751.5(AKAP9):c.*116A>T rs886062481
NM_005751.5(AKAP9):c.-105C>T rs886062465
NM_005751.5(AKAP9):c.-120G>A rs542223871
NM_005751.5(AKAP9):c.-214CGG[6] rs371245265
NM_005751.5(AKAP9):c.10924G>T (p.Ala3642Ser) rs762931104
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.11335A>C (p.Lys3779Gln) rs886062479
NM_005751.5(AKAP9):c.1644A>G (p.Arg548=) rs886062468
NM_005751.5(AKAP9):c.1671A>G (p.Lys557=) rs886062469
NM_005751.5(AKAP9):c.2964A>T (p.Glu988Asp) rs886062470
NM_005751.5(AKAP9):c.3278A>G (p.Asp1093Gly) rs886062471
NM_005751.5(AKAP9):c.3874T>C (p.Phe1292Leu) rs886062472
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) rs764066037
NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=) rs886062474
NM_005751.5(AKAP9):c.6888A>G (p.Gln2296=) rs886062475
NM_005751.5(AKAP9):c.7556A>G (p.Tyr2519Cys) rs886062476
NM_005751.5(AKAP9):c.8995A>G (p.Thr2999Ala) rs886062478
NM_005751.5(AKAP9):c.931-8del rs532128328
NM_005751.5(AKAP9):c.9358+10A>G rs180926926
NM_006514.4(SCN10A):c.44G>T (p.Arg15Leu)
NM_014588.6(VSX1):c.644G>T (p.Arg215Leu)
NM_021096.4(CACNA1I):c.3427G>A (p.Glu1143Lys)
NM_033337.3(CAV3):c.*467T>C rs886058917
NM_033337.3(CAV3):c.*725T>C rs886058918
NM_033337.3(CAV3):c.*853T>C rs886058920
NM_033337.3(CAV3):c.-33G>T rs72546666
NM_033337.3(CAV3):c.259C>T (p.Leu87Phe) rs768764242
NM_053056.3(CCND1):c.76C>T (p.Arg26Trp)
NM_080683.3(PTPN13):c.4843A>C (p.Ser1615Arg)
NM_172201.2(KCNE2):c.*240G>C rs773295544
NM_174934.3(SCN4B):c.-178C>T rs865930367
NM_174934.4(SCN4B):c.*1410C>T rs886047722
NM_174934.4(SCN4B):c.*1993del rs886047721
NM_174934.4(SCN4B):c.*2324A>T rs886047719
NM_174934.4(SCN4B):c.*2591G>T rs886047717
NM_174934.4(SCN4B):c.*3632del rs886047715
NM_174934.4(SCN4B):c.*812A>C rs1317544
NM_174934.4(SCN4B):c.*986C>T rs28675746
NM_174934.4(SCN4B):c.*989dup rs5795117
NM_174934.4(SCN4B):c.*990del rs747111771
NM_174934.4(SCN4B):c.127G>A (p.Ala43Thr) rs886047732
NM_174934.4(SCN4B):c.176T>C (p.Phe59Ser) rs764865890
NM_174934.4(SCN4B):c.362T>C (p.Leu121Pro) rs886047731
NM_174934.4(SCN4B):c.613T>A (p.Ser205Thr) rs761183228

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