ClinVar Miner

List of variants reported as likely pathogenic for Cardiomyopathy by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.14194C>T (p.Gln4732Ter) rs2081878770 0.00001
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NC_000012.12:g.32843315_32868927del
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1351+2T>G rs397515897
NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter) rs2095890370
NM_000256.3(MYBPC3):c.1484G>T (p.Arg495Leu) rs200411226
NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs)
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs) rs730880648
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.2068-2A>G
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2243dup (p.Tyr749fs) rs2142856598
NM_000256.3(MYBPC3):c.2294_2295del (p.Thr765fs) rs2142856521
NM_000256.3(MYBPC3):c.241_244del (p.Val81fs) rs2142869406
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2476del (p.Ile826fs) rs2095883614
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2542del (p.Ala848fs)
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2871del (p.Thr958fs) rs2095880923
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906_2994del
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.2995-2_2995-1del rs2142851672
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs)
NM_000256.3(MYBPC3):c.3268del (p.Gln1090fs) rs2095879053
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3412del (p.Arg1138fs) rs2095878612
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) rs2095877700
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.605del (p.Lys202fs) rs2095898456
NM_000256.3(MYBPC3):c.655-2A>G rs1219818351
NM_000256.3(MYBPC3):c.773-7_773dup
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.897del (p.Lys301fs) rs1555122928
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.93del (p.Glu32fs)
NM_000256.3:c.2855_3518del
NM_000256.3:c.2956_3519del
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1216G>A (p.Val406Met) rs1422611896
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln) rs727504320
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2332G>C (p.Asp778His) rs730880895
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
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.2711G>T (p.Arg904Leu) rs397516165
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys) rs750435648
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4663G>A (p.Glu1555Lys) rs727505176
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.595G>A (p.Ala199Thr) rs730880845
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.797A>G (p.Tyr266Cys) rs2138680281
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu) rs397516354
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000432.4(MYL2):c.193G>T (p.Glu65Ter) rs397516398
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) rs397516406
NM_000432.4(MYL2):c.491_495del (p.Glu164fs) rs1592798444
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1171-1_1556+1del
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1300del (p.Ala434fs) rs1956689333
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs) rs397516992
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.2084_2085del (p.His695fs)
NM_001005242.3(PKP2):c.223G>T (p.Gly75Ter)
NM_001005242.3(PKP2):c.636delinsAA (p.His213fs) rs2137948943
NM_001005242.3(PKP2):c.954_984del (p.His318fs) rs1956945634
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del) rs2031437544
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del) rs1682404578
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter) rs1559051231
NM_001267550.2(TTN):c.101001T>A (p.Tyr33667Ter)
NM_001267550.2(TTN):c.102234_102235delinsGT (p.Arg34079Ter) rs1690511212
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter) rs749961489
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs) rs2154318180
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13066_13087dup (p.Pro4363delinsHisHisTer) rs2154317982
NM_001267550.2(TTN):c.1558del (p.Thr520fs) rs1561445221
NM_001267550.2(TTN):c.2775+1G>T rs1057346353
NM_001267550.2(TTN):c.3462C>G (p.Tyr1154Ter) rs2154348959
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs) rs2061340651
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.43326_43327del (p.Gly14443fs) rs2154222273
NM_001267550.2(TTN):c.43509del (p.Asp14505fs)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs) rs1266824761
NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs) rs2154211017
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter) rs2154209488
NM_001267550.2(TTN):c.47211_47212del (p.Arg15737fs)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.48212C>G (p.Ser16071Ter)
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter) rs1559746821
NM_001267550.2(TTN):c.53002+2T>G
NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter) rs1171413936
NM_001267550.2(TTN):c.54382-12_54387delinsCT rs1559712733
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.57152del (p.Thr19051fs)
NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)
NM_001267550.2(TTN):c.584-1G>T
NM_001267550.2(TTN):c.60099dup (p.Glu20034fs) rs2050247265
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61898del (p.Leu20632_Leu20633insTer)
NM_001267550.2(TTN):c.62830del (p.Lys20943_Ile20944insTer)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs) rs1559556267
NM_001267550.2(TTN):c.63556delinsTA (p.Val21186fs) rs2154182456
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64098del (p.Glu21366fs) rs1576018303
NM_001267550.2(TTN):c.64828del (p.Ala21610fs)
NM_001267550.2(TTN):c.65697dup (p.Asp21900fs) rs2154178712
NM_001267550.2(TTN):c.65796dup (p.Asp21933fs)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66251dup (p.Ser22085fs) rs2047912002
NM_001267550.2(TTN):c.66525_66528dup (p.Trp22177fs)
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
NM_001267550.2(TTN):c.68357del (p.Asn22786fs)
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.69225T>A (p.Tyr23075Ter) rs2046607104
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
NM_001267550.2(TTN):c.70069dup (p.Arg23357fs) rs1709972937
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter) rs2154172475
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.71202dup (p.Lys23735fs) rs1553611989
NM_001267550.2(TTN):c.71329_71332dup (p.Ala23778fs) rs1709484351
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) rs869312116
NM_001267550.2(TTN):c.7719_7720dup (p.Pro2574fs) rs2154344521
NM_001267550.2(TTN):c.78063del (p.Val26022fs)
NM_001267550.2(TTN):c.78395_78396insG (p.Asp26132fs) rs2154166489
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.8219G>A (p.Trp2740Ter)
NM_001267550.2(TTN):c.82912del (p.Glu27638fs)
NM_001267550.2(TTN):c.8324_8330delinsTT (p.Ser2775fs)
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.84504del (p.Lys28168fs) rs1703692114
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.85835C>A (p.Ser28612Ter)
NM_001267550.2(TTN):c.86152G>T (p.Gly28718Ter) rs2154158315
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs) rs1064792916
NM_001267550.2(TTN):c.87354del (p.Ala29119fs) rs1559262463
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter) rs1243301263
NM_001267550.2(TTN):c.93665_93668dup (p.Leu31224fs) rs1697890809
NM_001267550.2(TTN):c.94634del (p.Arg31545fs) rs1697365096
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs) rs1697077852
NM_001267550.2(TTN):c.95593_95594del (p.Asp31865fs)
NM_001267550.2(TTN):c.9571C>T (p.Gln3191Ter)
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.96266dup (p.Asn32089fs) rs1695802877
NM_001267550.2(TTN):c.99103del (p.Val33035fs) rs1559079166
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001458.5(FLNC):c.2312del (p.Gly771fs)
NM_001458.5(FLNC):c.4288+1G>T
NM_001458.5(FLNC):c.5693del (p.Gly1898fs)
NM_001458.5(FLNC):c.7486del (p.Val2496fs)
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.948_952del (p.Lys318fs) rs2125168194
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs) rs2073310848
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_002230.4(JUP):c.1026dup (p.Ser343fs) rs1915470891
NM_002294.3(LAMP2):c.98_101del (p.Asn32_Leu33insTer) rs2147287662
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) rs1850628800
NM_003476.5(CSRP3):c.362del (p.Pro121fs) rs1565050709
NM_003476.5(CSRP3):c.414+1G>T rs935867046
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter) rs1561686893
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe) rs1240326550
NM_004415.4(DSP):c.171T>A (p.Cys57Ter) rs1758487010
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.2907del (p.Ser970fs) rs2113688929
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.4332dup (p.Gln1445fs) rs1561698714
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs) rs1561702549
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs) rs2113701305
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter) rs2113703930
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_024422.6(DSC2):c.154+2T>A
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter) rs999958582
NM_170707.4(LMNA):c.1032dup (p.Met345fs)
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1364_1365del (p.Arg455fs) rs1651642668
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile) rs869069617
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647

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