ClinVar Miner

List of variants reported as likely pathogenic for Primary dilated cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 392
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) rs397515939
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) rs727503265
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) rs397516122
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) rs397516123
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) rs1555338080
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro) rs876657879
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly) rs727503258
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.4(MYH7):c.457del (p.His153fs) rs397516224
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) rs397516252
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) rs869025483
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) rs397516352
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) rs397516356
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) rs397516363
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) rs397516364
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) rs397516370
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) rs727504389
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) rs397516371
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) rs876657662
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter) rs992189342
NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro)
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr)
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) rs727504859
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001256850.1(TTN):c.44423-1G>A rs869312070
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter) rs869312086
NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs) rs869312087
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107198_107223+4del rs1553479603
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter) rs869312039
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13614dup (p.Asn4539Ter) rs876657673
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.1800+1G>A rs397517497
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.29062del (p.Ala9688fs) rs869312040
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.32888-1del rs869312041
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40608del (p.Lys13536fs)
NM_001267550.2(TTN):c.41447del (p.Gly13816fs) rs869312042
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) rs869312105
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42636del (p.Ala14213fs) rs869312106
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) rs752856716
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499
NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) rs1576685753
NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer) rs869312044
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs) rs869312045
NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) rs869312046
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.47142_47143dup (p.Glu15715fs) rs869312107
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) rs869312048
NM_001267550.2(TTN):c.48761-1G>C rs876657665
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) rs727504825
NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter) rs869312108
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265
NM_001267550.2(TTN):c.50247del (p.Phe16749fs) rs869312071
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs) rs869312049
NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs) rs869312050
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) rs759231562
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.53881+1G>T rs869312051
NM_001267550.2(TTN):c.54327del (p.Lys18110fs)
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs) rs869312052
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.56206del (p.Thr18736fs) rs869312109
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) rs397517626
NM_001267550.2(TTN):c.56834del (p.Gly18945fs) rs869312110
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633
NM_001267550.2(TTN):c.58172del (p.Asp19391fs) rs869312072
NM_001267550.2(TTN):c.58732+2T>C rs869312054
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59352del (p.Glu19785fs) rs869312111
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
NM_001267550.2(TTN):c.59627-1G>A rs869312073
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter) rs763824247
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter)
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.69412+1G>A rs869312074
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter) rs777602537
NM_001267550.2(TTN):c.69639dup (p.Val23214fs) rs869025557
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) rs730880241
NM_001267550.2(TTN):c.69843del (p.Lys23281_Val23282insTer) rs869312075
NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter) rs869312114
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) rs727504655
NM_001267550.2(TTN):c.70791del (p.Gly23598fs) rs869312076
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) rs730880242
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.72832dup (p.Thr24278fs) rs876657669
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.74306dup (p.Asn24769fs) rs869312056
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) rs869312116
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs) rs869312077
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) rs869025553
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) rs869312078
NM_001267550.2(TTN):c.77421dup (p.Ser25808fs) rs730880343
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78507del (p.Gly26170fs) rs869312058
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81518del (p.Pro27173fs) rs869312079
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.82513del (p.Ile27505fs) rs869312060
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.83843del (p.Arg27948fs)
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86459_86460del (p.Ser28820fs) rs869312080
NM_001267550.2(TTN):c.86641del (p.His28881fs) rs869312061
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+2T>A rs397517735
NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter) rs869312062
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs)
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.87887_87890del (p.His29296fs) rs869312120
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.89750dup (p.Val29918fs) rs869312063
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs) rs869312064
NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs) rs869312082
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90778dup (p.Tyr30260fs) rs397517750
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.94562dup (p.Thr31522fs) rs869312083
NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs) rs869312066
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) rs876657671
NM_001267550.2(TTN):c.96460dup (p.Thr32154fs) rs869312084
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs) rs869312067
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99866-1G>A rs876657672
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) rs876658027
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) rs397516461
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.376G>A (p.Val126Met)
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_003373.4(VCL):c.1713del (p.Ala573fs) rs779488376
NM_003373.4(VCL):c.2746-2193_2746-2192del rs781036800
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003476.5(CSRP3):c.354G>A (p.Glu118=) rs876657767
NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser) rs1565053147
NM_003476.5(CSRP3):c.96G>A (p.Lys32=) rs1565053085
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_004281.3(BAG3):c.100_107del (p.Thr34fs) rs727505283
NM_004281.3(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.3(BAG3):c.1297C>T (p.Gln433Ter) rs730880055
NM_004281.3(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.3(BAG3):c.909+1G>A rs869025365
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) rs727504498
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) rs727504738
NM_004415.4(DSP):c.534_535insA (p.Gly179fs) rs397516945
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs) rs727502994
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter)
NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)
NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)
NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)
NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)
NM_013995.2(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_014000.3(VCL):c.1544-2A>G rs727503738
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) rs727504381
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) rs397517244
NM_014000.3(VCL):c.659dup (p.Asn220fs) rs397517245
NM_014000.3(VCL):c.670dup (p.Glu224fs) rs876657674
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_133378.4(TTN):c.38532C>A rs368200299
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_152299.4(NCAPH2):c.*1020_*1021insTGAGTCACTGCTGCATGCT rs749838192
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) rs753988867
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.356+1G>C rs794728589
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_170707.4(LMNA):c.476del (p.Glu159fs) rs876657650
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.555_556del (p.Asp185fs) rs1572358674
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer) rs1572358821
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_213569.2(NEBL):c.358-27884del rs768079285

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