ClinVar Miner

List of variants reported as uncertain significance for not provided by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp) rs145712124 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_003803.4(MYOM1):c.4711C>T (p.Arg1571Cys) rs373419422 0.00020
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met) rs142884499 0.00016
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) rs143812960 0.00016
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu) rs150737736 0.00015
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) rs147116577 0.00015
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 0.00013
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala) rs376720228 0.00013
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu) rs202174472 0.00013
NM_172201.2(KCNE2):c.-13+5G>A rs786205806 0.00013
NM_002246.3(KCNK3):c.832A>T (p.Ser278Cys) rs368524386 0.00012
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_004415.4(DSP):c.1140+6T>C rs534740669 0.00010
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser) rs200278862 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964 0.00006
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) rs150808807 0.00006
NM_001386795.1(DTNA):c.239G>A (p.Arg80His) rs774912781 0.00006
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_005751.5(AKAP9):c.9244C>T (p.Leu3082Phe) rs377611430 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) rs779108851 0.00006
NM_014000.3(VCL):c.1195A>C (p.Asn399His) rs377228795 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys) rs747820097 0.00005
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00004
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala) rs763590899 0.00004
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) rs527921534 0.00004
NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys) rs543524943 0.00004
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp) rs201763667 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) rs772839442 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_014000.3(VCL):c.32G>A (p.Ser11Asn) rs777811020 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346 0.00003
NM_000256.3(MYBPC3):c.3779G>A (p.Gly1260Asp) rs730880606 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr) rs374257100 0.00003
NM_001148.6(ANK2):c.1118C>T (p.Ala373Val) rs772102642 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_002476.2(MYL4):c.419G>A (p.Arg140His) rs374127769 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro) rs746392266 0.00003
NM_014476.6(PDLIM3):c.812C>T (p.Thr271Met) rs764497554 0.00003
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly) rs780934792 0.00002
NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val) rs782806847 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001148.6(ANK2):c.7517G>A (p.Arg2506Gln) rs780131495 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) rs786205847 0.00002
NM_003803.4(MYOM1):c.2086C>T (p.Arg696Cys) rs757565820 0.00002
NM_003803.4(MYOM1):c.4007A>T (p.Asp1336Val) rs575609095 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His) rs768990357 0.00002
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile) rs148643665 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met) rs201106879 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859 0.00002
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His) rs529401311 0.00002
NM_032578.4(MYPN):c.1088C>T (p.Ser363Phe) rs760566381 0.00002
NM_032578.4(MYPN):c.748A>C (p.Thr250Pro) rs770824805 0.00002
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp) rs1208010882 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met) rs755653624 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.464G>T (p.Gly155Val) rs1060501477 0.00001
NM_000256.3(MYBPC3):c.845G>A (p.Arg282Gln) rs761520688 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr) rs397516198 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.3464A>G (p.Asp1155Gly) rs747205537 0.00001
NM_000335.5(SCN5A):c.79C>T (p.Arg27Cys) rs746360906 0.00001
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser) rs199473084 0.00001
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val) rs753413305 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000384.3(APOB):c.11092A>G (p.Arg3698Gly) rs757756141 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn) rs747708938 0.00001
NM_001032283.3(TMPO):c.565+2092C>A rs563175204 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val) rs757471928 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr) rs573836993 0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr) rs574401232 0.00001
NM_001105206.3(LAMA4):c.355G>A (p.Gly119Arg) rs147016335 0.00001
NM_001105206.3(LAMA4):c.5206+1G>A rs368035482 0.00001
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val) rs1060500981 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001148.6(ANK2):c.2063T>A (p.Ile688Asn) rs746436835 0.00001
NM_001148.6(ANK2):c.9880A>C (p.Asn3294His) rs763211298 0.00001
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141 0.00001
NM_001267550.2(TTN):c.25147A>G (p.Ile8383Val) rs886038829 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met) rs886038812 0.00001
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp) rs4523540 0.00001
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg) rs1466334264 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001386795.1(DTNA):c.1613A>G (p.Asn538Ser) rs770486884 0.00001
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys) rs1183050599 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) rs878854484 0.00001
NM_002471.4(MYH6):c.1139A>C (p.Glu380Ala) rs747070258 0.00001
NM_002471.4(MYH6):c.1784T>A (p.Leu595Gln) rs751418733 0.00001
NM_002471.4(MYH6):c.4150C>T (p.Arg1384Trp) rs763926580 0.00001
NM_002667.5(PLN):c.74G>A (p.Arg25His) rs1004405095 0.00001
NM_003476.5(CSRP3):c.255C>T (p.Gly85=) rs752338221 0.00001
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn) rs1369953471 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948 0.00001
NM_004517.4(ILK):c.386G>C (p.Cys129Ser) rs1332744590 0.00001
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr) rs372632530 0.00001
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg) rs373572497 0.00001
NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile) rs1298504605 0.00001
NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) rs777627168 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn) rs751471841 0.00001
NM_014000.3(VCL):c.1863C>G (p.Asn621Lys) rs746293391 0.00001
NM_014391.3(ANKRD1):c.460C>T (p.Arg154Trp) rs751739709 0.00001
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu) rs377658203 0.00001
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988 0.00001
NM_016599.5(MYOZ2):c.158G>A (p.Arg53His) rs751671131 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017636.4(TRPM4):c.58T>A (p.Cys20Ser) rs864622643 0.00001
NM_018127.7(ELAC2):c.1669A>G (p.Ser557Gly) rs920039553 0.00001
NM_018127.7(ELAC2):c.1993G>A (p.Gly665Arg) rs777258865 0.00001
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 0.00001
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu) rs1378737709 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_032578.4(MYPN):c.3767C>T (p.Ser1256Leu) rs542627169 0.00001
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr) rs1228303561 0.00001
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) rs770357451 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000169.3(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000238.4(KCNH2):c.2626G>A (p.Glu876Lys) rs1554424688
NM_000238.4(KCNH2):c.545C>G (p.Ser182Trp) rs1057517742
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2905+3G>C rs1060501483
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1902C>T (p.Gly634=) rs1566533700
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5560-7C>A rs778224065
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.698C>T (p.Ala233Val) rs727504362
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln) rs397516263
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.424A>G (p.Lys142Glu) rs1553639863
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.4267A>T (p.Ile1423Phe) rs757843082
NM_000335.5(SCN5A):c.4832T>A (p.Ile1611Asn) rs1553693063
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000363.5(TNNI3):c.184G>A (p.Glu62Lys) rs1357844466
NM_000363.5(TNNI3):c.67T>C (p.Ser23Pro) rs1555864374
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000540.3(RYR1):c.8471A>G (p.Glu2824Gly) rs1555785560
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu) rs775309900
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg) rs1060500054
NM_001001430.3(TNNT2):c.40_41+1del rs1558251170
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu) rs730881156
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.637A>C (p.Lys213Gln) rs1566966003
NM_001018005.2(TPM1):c.715G>A (p.Ala239Thr) rs199476318
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln) rs1553298016
NM_001035.3(RYR2):c.10592A>G (p.Tyr3531Cys) rs794728769
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu) rs536555602
NM_001035.3(RYR2):c.12056T>C (p.Met4019Thr) rs886039150
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn) rs1060500169
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn) rs759048462
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.4(ACTN2):c.250C>T (p.Leu84=) rs1558232391
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln) rs1554334150
NM_001105206.3(LAMA4):c.371G>A (p.Gly124Glu) rs1562733361
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr) rs1060503412
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser) rs939425427
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001148.6(ANK2):c.2280C>G (p.Asn760Lys) rs1060501162
NM_001148.6(ANK2):c.9511T>G (p.Ser3171Ala) rs1554569481
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=) rs1553479171
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys) rs1553864504
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg) rs1553743733
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs) rs1060500443
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001276345.2(TNNT2):c.516_517delinsTT (p.Glu172_Glu173delinsAspTer) rs730881118
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu) rs1291689149
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001743.6(CALM2):c.179-8C>G rs1553431791
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg) rs1064794367
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002234.4(KCNA5):c.852_869del (p.His284_His289del) rs749443875
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys) rs1025146248
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002880.4(RAF1):c.1936C>T (p.Pro646Ser) rs1060503152
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg) rs1553292088
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter) rs1554967541
NM_003803.4(MYOM1):c.814C>T (p.His272Tyr) rs1555628272
NM_004006.3(DMD):c.7172A>G (p.Lys2391Arg) rs1556930538
NM_004006.3(DMD):c.7826G>A (p.Gly2609Asp) rs1060502649
NM_004281.4(BAG3):c.322G>T (p.Val108Leu) rs730880053
NM_004387.4(NKX2-5):c.335-7C>G rs937339110
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) rs1320947604
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004415.4(DSP):c.1090A>G (p.Ile364Val) rs886038909
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005188.4(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005751.5(AKAP9):c.11525C>T (p.Ser3842Phe) rs936516286
NM_005751.5(AKAP9):c.5233G>C (p.Val1745Leu) rs1060503578
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) rs1060502116
NM_006514.4(SCN10A):c.243T>A (p.Asp81Glu) rs1060501717
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser) rs1060502196
NM_014391.3(ANKRD1):c.651+4T>A rs765256800
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser) rs951273802
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile) rs1060503025
NM_016203.4(PRKAG2):c.467-2A>T rs1554531076
NM_017636.4(TRPM4):c.1726A>G (p.Met576Val) rs1555756223
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) rs1490908470
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018127.7(ELAC2):c.1780C>G (p.Gln594Glu) rs1435693717
NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp) rs1060502162
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_032578.4(MYPN):c.2003A>T (p.Asn668Ile) rs1554846764
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser) rs368448794
NM_033118.4(MYLK2):c.1425-6C>A rs200234935
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_170707.4(LMNA):c.1069G>T (p.Asp357Tyr) rs267607567
NM_170707.4(LMNA):c.1900G>A (p.Gly634Ser) rs879254188
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_201596.3(CACNB2):c.1639C>T (p.Arg547Cys) rs774654438

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