ClinVar Miner

List of variants studied for Dilated Cardiomyopathy, Dominant by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 398
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_001927.3(DES):c.*762T>C rs11685408 0.49560
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_014000.3(VCL):c.*1849_*1850insC rs200756813 0.16729
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_005159.4(ACTC1):c.*918delA rs34323254 0.13239
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001018004.2(TPM1):c.*119T>C rs138843544 0.02527
NM_000447.2(PSEN2):c.*536G>A rs16846619 0.02363
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_003476.4(CSRP3):c.-252G>A rs59444364 0.01356
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_000447.2(PSEN2):c.-400C>T rs186308126 0.00465
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_001134363.3(RBM20):c.*627_*628del rs34371891 0.00439
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_003476.4(CSRP3):c.-181delC rs886048102 0.00372
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_001943.5(DSG2):c.*131C>T rs146873880 0.00328
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_000337.6(SGCD):c.*1846_*1847dup rs527436848 0.00258
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001943.5(DSG2):c.*989C>T rs140755940 0.00172
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_014000.3(VCL):c.*1282C>T rs529687198 0.00054
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_005159.4(ACTC1):c.*983C>T rs549986676 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001943.5(DSG2):c.*1036C>G rs191443311 0.00032
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_001943.5(DSG2):c.*2034C>T rs886053738 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000021.3(PSEN1):c.-226C>A rs200531676 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_001032283.3(TMPO):c.-126A>T rs886049908 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_001103.4(ACTN2):c.*1274_*1275del rs771809993 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr) rs886048378 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_001330.5(CTF1):c.527G>A (p.Arg176His) rs886051925 0.00005
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_000021.3(PSEN1):c.-214T>G rs886050662 0.00004
NM_000021.4(PSEN1):c.*1415C>A rs574671310 0.00004
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_005159.4(ACTC1):c.*1318T>G rs759530643 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_014000.3(VCL):c.45G>A (p.Pro15=) rs775062250 0.00004
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr) rs775292649 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000337.6(SGCD):c.*1171C>A rs528794571 0.00003
NM_001018005.2(TPM1):c.-48C>T rs747523720 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) rs886045828 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.897-6909G>A rs532856980 0.00003
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) rs886050409 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_001042475.3(CEP85L):c.1020+17181A>T rs779232815 0.00001
NM_001042475.3(CEP85L):c.1020+6250A>T rs886060999 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_001276345.2(TNNT2):c.720-9C>A rs763204242 0.00001
NM_001943.5(DSG2):c.*599_*600del rs1491095224 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_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004281.4(BAG3):c.564G>T (p.Leu188=) rs886046754 0.00001
NM_005159.4(ACTC1):c.*1090A>G rs886051070 0.00001
NM_005159.4(ACTC1):c.-109C>A rs886051097 0.00001
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile) rs727502889 0.00001
NM_020297.4(ABCC9):c.4316-14T>G rs886049168 0.00001
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1716TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*3033CT[2] rs886050680
NM_000256.3(MYBPC3):c.*163C>A rs886048366
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.*26+3A>G rs886048369
NM_000256.3(MYBPC3):c.*327C>A rs886048364
NM_000256.3(MYBPC3):c.*95G>T rs886048368
NM_000256.3(MYBPC3):c.1458-9C>T rs886048379
NM_000256.3(MYBPC3):c.2603-4C>A rs886048377
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val) rs886048376
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=) rs886048375
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala) rs886048374
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) rs554694434
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=) rs886048372
NM_000256.3(MYBPC3):c.2905+7G>C rs886048371
NM_000256.3(MYBPC3):c.3627+6G>T rs886048370
NM_000256.3(MYBPC3):c.927-7G>T rs886048381
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.895+12C>A rs186276057
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.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
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.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000337.6(SGCD):c.*3918_*3921dup rs886060303
NM_000337.6(SGCD):c.*4340_*4341dup rs556887176
NM_000337.6(SGCD):c.*4341dup rs556887176
NM_000337.6(SGCD):c.*6045A>G rs886060312
NM_000337.6(SGCD):c.*6497dup rs886060314
NM_000337.6(SGCD):c.*6644del rs886060315
NM_000337.6(SGCD):c.*6660del rs57240389
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6661del rs886060317
NM_000337.6(SGCD):c.*8113_*8114dup rs397736317
NM_000337.6(SGCD):c.*8114dup rs397736317
NM_001018005.2(TPM1):c.*97CT[2] rs886051321
NM_001042475.3(CEP85L):c.1020+5609_1020+5610del rs141447190
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del rs765386927
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001134363.3(RBM20):c.*1098dup rs886046712
NM_001134363.3(RBM20):c.*2362_*2365del rs745346028
NM_001134363.3(RBM20):c.*2442G>A rs886046719
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001276345.2(TNNT2):c.-22G>T rs886045829
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001330.5(CTF1):c.*909C>G rs886051929
NM_001330.5(CTF1):c.*981dup rs886051931
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001927.4(DES):c.897+4_897+5del rs397516699
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.*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.*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.-44C>A rs886053710
NM_001943.5(DSG2):c.-4T>G rs886053711
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.828+10A>C rs886053712
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.675C>T (p.Asn225=) rs886050413
NM_003476.4(CSRP3):c.-161delG rs138573509
NM_003476.4(CSRP3):c.-162_-161AG[6] rs886048098
NM_003476.4(CSRP3):c.-180delA rs34865888
NM_003476.4(CSRP3):c.-182delT rs886048103
NM_004100.5(EYA4):c.*1142del rs886061091
NM_004100.5(EYA4):c.*2479del rs886061095
NM_004100.5(EYA4):c.*737dup rs749389761
NM_004100.5(EYA4):c.-227dup rs138964393
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004281.4(BAG3):c.*240GTT[1] rs3981124
NM_004281.4(BAG3):c.*306_*307del rs796515184
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg) rs886046755
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_005159.4(ACTC1):c.*1062G>A rs886051072
NM_005159.4(ACTC1):c.*1070A>C rs886051071
NM_005159.4(ACTC1):c.*1115A>T rs886051069
NM_005159.4(ACTC1):c.*1482G>T rs886051066
NM_005159.4(ACTC1):c.*1502G>T rs886051065
NM_005159.4(ACTC1):c.*1753G>T rs886051064
NM_005159.4(ACTC1):c.*1797C>A rs886051063
NM_005159.4(ACTC1):c.*2168G>T rs886051061
NM_005159.4(ACTC1):c.*224G>C rs551820554
NM_005159.4(ACTC1):c.*247G>A rs886051088
NM_005159.4(ACTC1):c.*284G>A rs886051087
NM_005159.4(ACTC1):c.*307T>A rs886051086
NM_005159.4(ACTC1):c.*422T>A rs886051084
NM_005159.4(ACTC1):c.*561C>A rs886051083
NM_005159.4(ACTC1):c.*643C>A rs886051081
NM_005159.4(ACTC1):c.*646C>A rs886051080
NM_005159.4(ACTC1):c.*674C>A rs886051079
NM_005159.4(ACTC1):c.*708G>T rs886051077
NM_005159.4(ACTC1):c.*739G>T rs886051076
NM_005159.4(ACTC1):c.*775C>A rs886051075
NM_005159.4(ACTC1):c.*935G>T rs766542832
NM_005159.4(ACTC1):c.-101G>T rs886051095
NM_005159.4(ACTC1):c.-105C>A rs886051096
NM_005159.4(ACTC1):c.-175C>A rs886051098
NM_005159.4(ACTC1):c.-194C>A rs886051099
NM_005159.5(ACTC1):c.-55C>A rs886051093
NM_005159.5(ACTC1):c.-55CCG[3] rs886051092
NM_005159.5(ACTC1):c.809-12_809-11insGT rs774238821
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.978C>A (p.Thr326=) rs886051089
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_014000.3(VCL):c.*145del rs756151016
NM_014000.3(VCL):c.*1665_*1669dup rs886047227
NM_014000.3(VCL):c.*1705AAGA[3] rs1554820063
NM_014000.3(VCL):c.*1841_*1842insA rs886047231
NM_014000.3(VCL):c.*1841_*1842insAA rs886047231
NM_014000.3(VCL):c.*1860_*1862dup rs3037361
NM_014000.3(VCL):c.*1861_*1862dup rs3037361
NM_014000.3(VCL):c.*353CT[1] rs144115212
NM_014000.3(VCL):c.*709del rs886047223
NM_014000.3(VCL):c.*990_*991dup rs397804906
NM_014391.3(ANKRD1):c.*203TTTA[2] rs143761686
NM_014391.3(ANKRD1):c.*544_*548del rs886047478
NM_014391.3(ANKRD1):c.*566_*574del rs71025330
NM_014391.3(ANKRD1):c.*570_*574dup rs71025330
NM_014391.3(ANKRD1):c.*571_*574dup rs71025330
NM_014391.3(ANKRD1):c.346-12_346-11insTATA rs766545285
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014391.3(ANKRD1):c.652-13del rs3839929
NM_020297.4(ABCC9):c.1165-4del rs886049172
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-16del rs886049170
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_144573.3(NEXN):c.-212_-210GGC[7] rs528439602
NM_144573.4(NEXN):c.*418del rs368295679
NM_144573.4(NEXN):c.*418dup rs368295679
NM_144573.4(NEXN):c.*4CT[1] rs553696163
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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