ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular cardiomyopathy

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ClinVar version:
Total variants: 529
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48955
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16859
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_024334.3(TMEM43):c.*277C>T rs11943 0.03059
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02523
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_004415.4(DSP):c.*276_*278del rs144440643 0.01744
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_024334.3(TMEM43):c.*1054_*1058del rs550702296 0.00553
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_024334.3(TMEM43):c.*806A>C rs58476065 0.00408
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001943.5(DSG2):c.*131C>T rs146873880 0.00328
NM_024422.6(DSC2):c.*1237G>A rs28530723 0.00292
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_024422.6(DSC2):c.*185A>G rs147458812 0.00227
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_001943.5(DSG2):c.*989C>T rs140755940 0.00172
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_024422.6(DSC2):c.*1104G>A rs186055396 0.00080
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_001943.5(DSG2):c.*1036C>G rs191443311 0.00032
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433 0.00032
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn) rs765517955 0.00016
NM_001943.5(DSG2):c.*2034C>T rs886053738 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_003239.5(TGFB3):c.-547dup rs886050802 0.00014
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_001035.3(RYR2):c.13957-5C>G rs189772599 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_003239.5(TGFB3):c.*185C>T rs3917216 0.00009
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs) rs745882420 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His) rs183881662 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys) rs755781709 0.00004
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp) rs529403382 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys) rs558673680 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_024334.3(TMEM43):c.*849T>C rs886058034 0.00003
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_001005242.3(PKP2):c.*1220A>G rs886049306 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001035.3(RYR2):c.11039+7T>C rs569571855 0.00002
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met) rs377030538 0.00002
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970 0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser) rs781248790 0.00002
NM_001943.5(DSG2):c.1014+7A>G rs756562276 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_002230.4(JUP):c.*19G>A rs782012233 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys) rs770911263 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_024422.6(DSC2):c.*784G>T rs1613246 0.00002
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp) rs748675400 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu) rs766554531 0.00001
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu) rs1649395606 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1840-5G>C rs752016948 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser) rs1299197961 0.00001
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser) rs1330847491 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535 0.00001
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg) rs750510651 0.00001
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu) rs769384124 0.00001
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val) rs368316926 0.00001
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln) rs766001488 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001943.5(DSG2):c.*599_*600del rs1491095224 0.00001
NM_001943.5(DSG2):c.1014+1G>A rs587782939 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) rs368584610 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082 0.00001
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_002230.4(JUP):c.1500A>T (p.Ala500=) rs869025443 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His) rs1299759608 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr) rs773215003 0.00001
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
NM_001005242.3(PKP2):c.*1023C>T rs886049309
NM_001005242.3(PKP2):c.*1048G>T rs886049308
NM_001005242.3(PKP2):c.*1159A>T rs886049307
NM_001005242.3(PKP2):c.*1199del rs11476598
NM_001005242.3(PKP2):c.*1311del rs3833501
NM_001005242.3(PKP2):c.*320C>A rs886049315
NM_001005242.3(PKP2):c.*578_*583dup rs137947383
NM_001005242.3(PKP2):c.*579C>A rs886049314
NM_001005242.3(PKP2):c.*753C>G rs886049313
NM_001005242.3(PKP2):c.*910C>A rs886049312
NM_001005242.3(PKP2):c.*953C>A rs886049311
NM_001005242.3(PKP2):c.*962C>A rs886049310
NM_001005242.3(PKP2):c.-15G>T rs886049325
NM_001005242.3(PKP2):c.1034+1del rs1555148011
NM_001005242.3(PKP2):c.1035-1G>A rs1555147210
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro) rs730880180
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer) rs876657659
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-2027A>G rs778247181
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.14del (p.Gly5fs) rs397516996
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1577del (p.Ala526fs) rs397517005
NM_001005242.3(PKP2):c.1584del (p.Arg529fs) rs1592738654
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1628del (p.Val543fs) rs397517009
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1708del (p.Leu570fs) rs1555142994
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) rs397517015
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro) rs886049324
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) rs397517017
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2419del (p.Thr807fs) rs727504786
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs) rs397517025
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.337-5T>G rs2137951361
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val) rs886049323
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.681C>G (p.Ser227Arg) rs762263587
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) rs397517030
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs) rs1555148032
NM_001005242.3(PKP2):c.983dup (p.Ser329fs) rs786205353
NM_001035.3(RYR2):c.*1023G>T rs886046304
NM_001035.3(RYR2):c.*1065A>G rs886046305
NM_001035.3(RYR2):c.*1070G>T rs886046306
NM_001035.3(RYR2):c.*167_*168dup rs886046284
NM_001035.3(RYR2):c.*187C>A rs886046285
NM_001035.3(RYR2):c.*206C>A rs886046286
NM_001035.3(RYR2):c.*272C>A rs886046287
NM_001035.3(RYR2):c.*354A>G rs886046289
NM_001035.3(RYR2):c.*378C>A rs886046290
NM_001035.3(RYR2):c.*578del rs113047070
NM_001035.3(RYR2):c.*578dup rs113047070
NM_001035.3(RYR2):c.*642A>C rs886046297
NM_001035.3(RYR2):c.*646del rs377407067
NM_001035.3(RYR2):c.*646dup rs377407067
NM_001035.3(RYR2):c.*715_*716insGC rs886046302
NM_001035.3(RYR2):c.*716del rs397983403
NM_001035.3(RYR2):c.*716dup rs397983403
NM_001035.3(RYR2):c.*717GCCCCC[1] rs886046299
NM_001035.3(RYR2):c.*79C>A rs886046282
NM_001035.3(RYR2):c.*84del rs764277833
NM_001035.3(RYR2):c.*890_*893dup rs10667874
NM_001035.3(RYR2):c.-20C>A rs778527185
NM_001035.3(RYR2):c.-27C>A rs886046260
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly) rs1553453324
NM_001035.3(RYR2):c.10323+13dup rs886046276
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr) rs1374577335
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys) rs886046278
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys) rs1299849256
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.2204-10C>A rs886046264
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu) rs1278512393
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr) rs1194621692
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu) rs886046267
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys) rs886046268
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys) rs1057518518
NM_001035.3(RYR2):c.5306T>C (p.Val1769Ala) rs1553522244
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile) rs2148667252
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp) rs2148728656
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr) rs373193260
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys) rs1683039143
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn) rs2148846582
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) rs750988872
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val) rs869025433
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1315G>A (p.Glu439Lys) rs1114167347
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.4(DSG2):c.-153dup rs886053708
NM_001943.5(DSG2):c.*1012C>T rs886053733
NM_001943.5(DSG2):c.*1450G>A rs886053734
NM_001943.5(DSG2):c.*1473G>T rs886053735
NM_001943.5(DSG2):c.*1714_*1715dup rs10645928
NM_001943.5(DSG2):c.*1786G>T rs886053737
NM_001943.5(DSG2):c.*25del rs886053717
NM_001943.5(DSG2):c.*351C>A rs886053720
NM_001943.5(DSG2):c.*419G>T rs552933757
NM_001943.5(DSG2):c.*601TG[7] rs36022761
NM_001943.5(DSG2):c.*874C>T rs886053728
NM_001943.5(DSG2):c.*932_*933insA rs886053730
NM_001943.5(DSG2):c.*944del rs368604939
NM_001943.5(DSG2):c.*944dup rs368604939
NM_001943.5(DSG2):c.*960dup rs200149790
NM_001943.5(DSG2):c.-44C>A rs886053710
NM_001943.5(DSG2):c.-4T>G rs886053711
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly) rs1598826780
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser) rs1284705376
NM_001943.5(DSG2):c.828+10A>C rs886053712
NM_001943.5(DSG2):c.829-3C>A rs1295936995
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys) rs1555602080
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.708-3C>A rs1555604620
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu) rs1369680809
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.-536dup rs71451199
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln) rs1288935716
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1627A>C (p.Asn543His) rs917602533
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.208_209dup (p.Ile71fs) rs727502993
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2920del (p.Thr974fs) rs727505260
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro) rs397516929
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter) rs1581816089
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) rs767885673
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val) rs2113699658
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
NM_004572.3(PKP2):c.-97_-93dup rs886049329
NM_004628.5(XPC):c.*397_*400del rs3731180
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_005477.3(HCN4):c.2261A>G (p.His754Arg) rs762856084
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_020297.4(ABCC9):c.1884del (p.Phe628fs) rs869025348
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_024334.3(TMEM43):c.*1080G>T rs886058035
NM_024334.3(TMEM43):c.*1161C>A rs886058036
NM_024334.3(TMEM43):c.*1352_*1357del rs71699966
NM_024334.3(TMEM43):c.*1535T>C rs886058038
NM_024334.3(TMEM43):c.*1584G>T rs886058039
NM_024334.3(TMEM43):c.*1642T>G rs886058040
NM_024334.3(TMEM43):c.*1677dup rs886058041
NM_024334.3(TMEM43):c.*1700G>T rs886058042
NM_024334.3(TMEM43):c.*270T>C rs886058032
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.3(TMEM43):c.584-4T>A rs2124990773
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024422.6(DSC2):c.*1126G>T rs886053687
NM_024422.6(DSC2):c.*1923C>A rs886053682
NM_024422.6(DSC2):c.*640G>T rs886053691
NM_024422.6(DSC2):c.*709CT[3] rs886053690
NM_024422.6(DSC2):c.*764del rs796836744
NM_024422.6(DSC2):c.*764dup rs796836744
NM_024422.6(DSC2):c.*833G>C rs886053689
NM_024422.6(DSC2):c.*934C>A rs886053688
NM_024422.6(DSC2):c.-20A>C rs886053696
NM_024422.6(DSC2):c.-392G>A rs886053702
NM_024422.6(DSC2):c.-424G>T rs555722283
NM_024422.6(DSC2):c.-42C>T rs886053697
NM_024422.6(DSC2):c.154+1G>A rs397517393
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.2251-3C>T rs2144784605
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro) rs869025386
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter) rs869025543

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