ClinVar Miner

List of variants reported as likely benign for congenital heart disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_174934.4(SCN4B):c.*3054T>C rs3741315 0.59553
NM_005751.5(AKAP9):c.-124G>C rs4727267 0.58166
NM_174934.4(SCN4B):c.*785G>A rs1814964 0.57662
NM_174934.4(SCN4B):c.*1334G>A rs7124127 0.51745
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) rs1063243 0.42386
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) rs10236397 0.40488
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33792
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_174934.4(SCN4B):c.*924_*934dup rs1370870059 0.30565
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_174934.4(SCN4B):c.*2120A>C rs45460396 0.24417
NM_174934.4(SCN4B):c.*2879T>C rs45584835 0.24415
NM_174934.4(SCN4B):c.*2623A>G rs868344 0.24112
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_003098.2(SNTA1):c.-255G>C rs57684257 0.08518
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_172201.2(KCNE2):c.-79G>A rs41260744 0.07525
NM_000219.6(KCNE1):c.*2461A>G rs13050198 0.06850
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_005159.4(ACTC1):c.*1674C>T rs112660730 0.04304
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_174934.4(SCN4B):c.174C>T (p.Cys58=) rs45539032 0.03816
NM_001018005.2(TPM1):c.*148G>T rs7668 0.03733
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505 0.03644
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_005751.5(AKAP9):c.3318+13C>A rs73403768 0.03055
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_003098.3(SNTA1):c.*343G>A rs41305789 0.02092
NM_005159.4(ACTC1):c.*868T>G rs80139141 0.01974
NM_000219.6(KCNE1):c.*2103C>T rs41312367 0.01957
NM_003098.3(SNTA1):c.-96G>A rs145471317 0.01822
NM_000219.6(KCNE1):c.*2098T>C rs41312993 0.01820
NM_000219.6(KCNE1):c.-375A>G rs41315349 0.01784
NM_005159.4(ACTC1):c.*269C>T rs74009720 0.01739
NM_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_000238.4(KCNH2):c.*112C>T rs28763994 0.01622
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) rs34370932 0.01563
NM_005751.5(AKAP9):c.10608-15G>C rs112467497 0.01552
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_174934.4(SCN4B):c.*1962C>T rs7934994 0.01416
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_174934.4(SCN4B):c.*979C>A rs541268607 0.01330
NM_174934.4(SCN4B):c.*2952G>A rs76776242 0.01280
NM_000238.4(KCNH2):c.*15G>A rs41313746 0.01245
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334 0.01237
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_005159.4(ACTC1):c.*781G>A rs145085048 0.01199
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_174934.4(SCN4B):c.*1071T>C rs117263855 0.01170
NM_005751.5(AKAP9):c.747A>G (p.Glu249=) rs78515732 0.01148
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_174934.4(SCN4B):c.*2496C>T rs114345754 0.01089
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_174934.4(SCN4B):c.*889G>A rs113579428 0.01073
NM_000890.5(KCNJ5):c.*34G>T rs116494206 0.01052
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_000218.3(KCNQ1):c.1393+22646C>G rs146407692 0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T rs72847701 0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T rs72850203 0.00923
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) rs75025585 0.00904
NM_003098.3(SNTA1):c.*342C>T rs150740903 0.00900
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768 0.00849
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_005159.4(ACTC1):c.*846G>A rs78596978 0.00833
NM_005159.4(ACTC1):c.*856G>A rs79104010 0.00827
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_174934.4(SCN4B):c.*1164G>A rs1793158 0.00807
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_003098.2(SNTA1):c.-245C>A rs531929083 0.00728
NM_005159.5(ACTC1):c.-50G>A rs139691739 0.00724
NM_005159.4(ACTC1):c.*1004A>G rs116034611 0.00698
NM_000219.6(KCNE1):c.*1226_*1229del rs551512090 0.00693
NM_001148.6(ANK2):c.*1799G>A rs144480929 0.00683
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_005159.4(ACTC1):c.*688T>G rs116184851 0.00680
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_005751.5(AKAP9):c.11331-11A>T rs115270109 0.00611
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_174934.4(SCN4B):c.*1842G>C rs117471801 0.00566
NM_001148.6(ANK2):c.*906G>A rs41279313 0.00551
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_000218.3(KCNQ1):c.1514+4974G>A rs188083723 0.00530
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_174934.4(SCN4B):c.*2785C>T rs77548426 0.00502
NM_005159.4(ACTC1):c.*518A>G rs115295911 0.00500
NM_000335.5(SCN5A):c.*1820C>G rs45610536 0.00458
NM_005159.4(ACTC1):c.*757G>A rs78727649 0.00452
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_005159.5(ACTC1):c.*22C>T rs28730667 0.00412
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_000238.4(KCNH2):c.*190C>T rs41313143 0.00377
NM_000890.5(KCNJ5):c.*759C>T rs75453162 0.00373
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000219.6(KCNE1):c.*493C>T rs77190660 0.00371
NM_000890.5(KCNJ5):c.*547G>A rs114896724 0.00370
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00329
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_000219.6(KCNE1):c.-377+13G>A rs41315351 0.00323
NM_174934.4(SCN4B):c.*988_*989insA rs5795119 0.00318
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000890.5(KCNJ5):c.*1216C>T rs566376081 0.00293
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_005159.4(ACTC1):c.*1513T>C rs113063427 0.00287
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_174934.4(SCN4B):c.*362G>T rs72546681 0.00269
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_000890.5(KCNJ5):c.*1091G>A rs565178107 0.00218
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_000219.6(KCNE1):c.*1338C>T rs74508995 0.00201
NM_000890.5(KCNJ5):c.*96G>A rs77092337 0.00200
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_174934.4(SCN4B):c.*905C>G rs565174265 0.00189
NM_000219.6(KCNE1):c.*817A>G rs75375964 0.00188
NM_000219.5(KCNE1):c.-628A>G rs76210431 0.00186
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_174934.4(SCN4B):c.*3279G>A rs145392070 0.00156
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_001148.6(ANK2):c.*2108C>T rs190513908 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
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_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=) rs34901081 0.00106
NM_001148.6(ANK2):c.11725T>C (p.Ser3909Pro) rs141124755 0.00100
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_000890.5(KCNJ5):c.*1302C>T rs552826605 0.00089
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_174934.3(SCN4B):c.-222T>A rs191321129 0.00084
NM_000219.6(KCNE1):c.*1838T>A rs41312369 0.00083
NM_000219.6(KCNE1):c.*2001G>A rs41314799 0.00083
NM_001148.6(ANK2):c.7397G>A (p.Arg2466His) rs142078935 0.00081
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000890.5(KCNJ5):c.*977T>C rs181648220 0.00068
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000335.5(SCN5A):c.*889C>A rs546849670 0.00063
NM_000335.5(SCN5A):c.*920G>C rs561475141 0.00063
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000219.6(KCNE1):c.*30C>G rs150963475 0.00061
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_000219.6(KCNE1):c.*196C>G rs76568182 0.00054
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000218.3(KCNQ1):c.*241G>A rs142023323 0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000890.5(KCNJ5):c.-63G>C rs557063967 0.00044
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp) rs139537086 0.00044
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000219.6(KCNE1):c.-531C>T rs41315473 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_001148.6(ANK2):c.*951C>T rs139693273 0.00039
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr) rs3733616 0.00038
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_001148.6(ANK2):c.*243A>T rs186133938 0.00036
NM_000219.6(KCNE1):c.*1574C>T rs561997378 0.00033
NM_000890.5(KCNJ5):c.*1310C>T rs537850039 0.00033
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000219.6(KCNE1):c.*373A>G rs41314805 0.00022
NM_000890.5(KCNJ5):c.*960G>C rs186315097 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001148.6(ANK2):c.*843C>T rs189421233 0.00020
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg) rs200628845 0.00020
NM_000219.6(KCNE1):c.*1666G>A rs181999033 0.00019
NM_172201.2(KCNE2):c.354G>A (p.Gly118=) rs187917779 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00017
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884 0.00015
NM_001148.6(ANK2):c.2592T>C (p.Pro864=) rs138641014 0.00015
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_001148.6(ANK2):c.2850C>A (p.Gly950=) rs189563238 0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00011
NM_000219.6(KCNE1):c.-82T>G rs145416040 0.00010
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000219.6(KCNE1):c.*2000C>T rs544071641 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_001148.6(ANK2):c.*94G>A rs538318153 0.00006
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu) rs141212932 0.00006
NM_001148.6(ANK2):c.7932G>A (p.Glu2644=) rs201645638 0.00006
NM_174934.4(SCN4B):c.*1053T>C rs191989669 0.00006
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000219.6(KCNE1):c.-432G>A rs539503433 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) rs528463709 0.00005
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) rs769470521 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_001148.6(ANK2):c.5936C>T (p.Ser1979Leu) rs531574502 0.00004
NM_172201.2(KCNE2):c.-85G>A rs41315511 0.00004
NM_174934.4(SCN4B):c.*2918A>G rs570654511 0.00004
NM_174934.4(SCN4B):c.*471A>T rs539487703 0.00004
NM_000219.6(KCNE1):c.*2150G>A rs530554373 0.00003
NM_000219.6(KCNE1):c.*2194T>C rs529806670 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_001148.6(ANK2):c.9939C>T (p.Thr3313=) rs562895246 0.00003
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) rs776541110 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=) rs567570285 0.00002
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00001
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000719.7(CACNA1C):c.*2288G>A rs554155021 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_001148.6(ANK2):c.2819C>G (p.Ala940Gly) rs537484483 0.00001
NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala) rs150841275 0.00001
NM_001148.6(ANK2):c.4123-13T>C rs759465783 0.00001
NM_001148.6(ANK2):c.7943G>A (p.Gly2648Asp) rs563254150 0.00001
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg) rs551454026 0.00001
NM_000165.5(GJA1):c.*1018_*1021del rs375943953
NM_000165.5(GJA1):c.*772_*773dup rs397698276
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000218.3(KCNQ1):c.*377del rs762386874
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.*889AAT[1] rs546360517
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*923G>A rs182050647
NM_000219.6(KCNE1):c.*946del rs142762112
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000890.5(KCNJ5):c.*121G>T rs78979538
NM_000890.5(KCNJ5):c.*936C>T rs77525858
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) rs528909081
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup) rs574179816
NM_003098.3(SNTA1):c.*122G>A rs116151218
NM_003221.4(TFAP2B):c.*15AAG[1] rs140328017
NM_003221.4(TFAP2B):c.*1938dup rs568007912
NM_003221.4(TFAP2B):c.*4213GT[1] rs373428030
NM_005159.4(ACTC1):c.*2053G>T rs79955486
NM_005159.4(ACTC1):c.*875G>C rs73387693
NM_005159.5(ACTC1):c.*137A>T rs149031785
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_033337.3(CAV3):c.*813del rs66667169
NM_174934.4(SCN4B):c.*3607_*3611del rs569520041
NM_174934.4(SCN4B):c.*524dup rs66491110
NM_174934.4(SCN4B):c.*812A>G rs1317544
NM_174934.4(SCN4B):c.*986C>G rs28675746
NM_174934.4(SCN4B):c.*987C>G rs559032799

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