ClinVar Miner

List of variants reported as likely pathogenic for Cardiovascular phenotype

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ClinVar version:
Total variants: 307
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HGVS dbSNP
NM_000090.3(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.3(COL3A1):c.898-2A>G rs1553507574
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000093.4(COL5A1):c.5165dup (p.Val1723Cysfs) rs1554726251
NM_000093.4(COL5A1):c.655-1G>C rs1554787526
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.4(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.4(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.4(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.2419+1G>A rs1555399257
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.4(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.4(FBN1):c.2728+2T>C rs886038898
NM_000138.4(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.4(FBN1):c.3125G>A (p.Gly1042Asp) rs1555398680
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3584G>A (p.Cys1195Tyr) rs886038802
NM_000138.4(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.4(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.4(FBN1):c.4577G>A (p.Cys1526Tyr) rs886039120
NM_000138.4(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.4(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.4(FBN1):c.5698T>A (p.Cys1900Ser) rs1555395840
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.4(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.4(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6410G>C (p.Cys2137Ser) rs1555395206
NM_000138.4(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) rs794728253
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.4(FBN1):c.6773G>A (p.Cys2258Tyr) rs886039047
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.7363T>C (p.Cys2455Arg) rs886038930
NM_000138.4(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.4(FBN1):c.7649G>C (p.Cys2550Ser) rs1555394196
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7742G>T (p.Cys2581Phe) rs1555394149
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.8003G>A (p.Gly2668Asp) rs1555393837
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000144.4(FXN):c.11_12delTC (p.Leu4Argfs) rs143232208
NM_000169.2(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.2(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000219.5(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.2766delG (p.Pro923Argfs) rs1554424403
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000257.2(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.2(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.2(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.3(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.3(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.3(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.3(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.3(MYH7):c.2886delC (p.Val964Trpfs) rs886038901
NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del) rs397516190
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000302.3(PLOD1):c.1471-2A>G rs1401035675
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.426delC (p.Pro144Leufs) rs786205430
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_001001430.2(TNNT2):c.281G>A (p.Arg94His) rs397516457
NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys) rs397516463
NM_001001430.2(TNNT2):c.391C>T (p.Arg131Trp) rs74315380
NM_001001430.2(TNNT2):c.536C>T (p.Ser179Phe) rs727504246
NM_001018005.1(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.1(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001035.2(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.2(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.2(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.2(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.2(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.2(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001037.4(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001232.3(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070
NM_001232.3(CASQ2):c.235-2A>G rs1060502164
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001256850.1(TTN):c.11454delT (p.Asn3818Lysfs) rs727503658
NM_001256850.1(TTN):c.39976C>T (p.Arg13326Ter) rs727505350
NM_001256850.1(TTN):c.40393_40397dupAGCTC (p.Arg13467Alafs) rs794729390
NM_001256850.1(TTN):c.43092_43093delAG (p.Asp14366Profs) rs794729319
NM_001256850.1(TTN):c.43360C>T (p.Arg14454Ter) rs374140736
NM_001256850.1(TTN):c.49189delG (p.Glu16397Argfs) rs794729325
NM_001256850.1(TTN):c.57294T>A (p.Tyr19098Ter) rs727503586
NM_001256850.1(TTN):c.72723_72739del17insAGA (p.Ile24242Aspfs) rs794729345
NM_001256850.1(TTN):c.84274+1G>C rs1131691873
NM_001256850.1(TTN):c.84297_84298insT (p.Ile28100Tyrfs) rs1064794472
NM_001256850.1(TTN):c.87394C>T (p.Arg29132Ter) rs794729301
NM_001256850.1(TTN):c.88243C>T (p.Arg29415Ter) rs72648250
NM_001256850.1(TTN):c.95963G>A (p.Trp31988Ter) rs1260821931
NM_001256850.1(TTN):c.96304C>T (p.Arg32102Ter) rs794729305
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831Lysfs) rs1553696967
NM_001267550.2(TTN):c.84557dup (p.Ile28187Asnfs) rs1553564589
NM_001267550.2(TTN):c.98299_98300delAG (p.Arg32767Glyfs) rs397517776
NM_001456.3(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001613.2(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.2(ACTA2):c.772C>T (p.Arg258Cys) rs121434528
NM_001613.3(ACTA2):c.146T>C (p.Met49Thr) rs869025352
NM_001943.3(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_001999.3(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.3(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.3(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.3(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.3(FBN2):c.6638-2A>C rs886039200
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_003238.4(TGFB2):c.1139G>T (p.Cys380Phe) rs1553303745
NM_003238.4(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.4(TGFB3):c.1102_1105delCTGA (p.Leu368Thrfs) rs1555360047
NM_003319.4(TTN):c.14288delC (p.Pro4763Glnfs) rs876657664
NM_003319.4(TTN):c.18421G>T (p.Glu6141Ter) rs796314079
NM_003319.4(TTN):c.1951A>T (p.Lys651Ter) rs1554023044
NM_003319.4(TTN):c.20299C>T (p.Arg6767Ter) rs751746401
NM_003319.4(TTN):c.22663G>T (p.Glu7555Ter) rs1553699454
NM_003319.4(TTN):c.22675C>T (p.Arg7559Ter) rs1471414348
NM_003319.4(TTN):c.23466C>A (p.Tyr7822Ter) rs1553696233
NM_003319.4(TTN):c.26093-1G>C rs1553685927
NM_003319.4(TTN):c.32156_32157delCT (p.Pro10719Argfs) rs886039027
NM_003319.4(TTN):c.32265G>A (p.Trp10755Ter) rs1250461669
NM_003319.4(TTN):c.34442dupA (p.Tyr11482Valfs) rs886039084
NM_003319.4(TTN):c.35311C>T (p.Arg11771Ter) rs757231565
NM_003319.4(TTN):c.35432delT (p.Val11811Glyfs) rs1553640190
NM_003319.4(TTN):c.43015_43028delGAATGTAACAGATAinsTTTACTCTTC (p.Glu14339Phefs) rs1553614347
NM_003319.4(TTN):c.43599delA (p.Glu14534Argfs) rs1553612904
NM_003319.4(TTN):c.45450delTinsCTGCAA (p.Ala15151Cysfs) rs1553609137
NM_003319.4(TTN):c.48284_48287delTAAA (p.Ile16095Argfs) rs1553603364
NM_003319.4(TTN):c.48779G>A (p.Trp16260Ter) rs1553602546
NM_003319.4(TTN):c.50032G>T (p.Glu16678Ter) rs765997807
NM_003319.4(TTN):c.52252dupG (p.Asp17418Glyfs) rs886039211
NM_003319.4(TTN):c.53931delG (p.Glu17977Aspfs) rs1553579429
NM_003319.4(TTN):c.57281delG (p.Gly19094Valfs) rs1553564694
NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter) rs770038577
NM_003319.4(TTN):c.59425G>T (p.Gly19809Ter) rs765852996
NM_003319.4(TTN):c.60989delT (p.Phe20330Serfs) rs1553551651
NM_003319.4(TTN):c.61227G>A (p.Trp20409Ter) rs1553547657
NM_003319.4(TTN):c.63918G>A (p.Trp21306Ter) rs1553538469
NM_003319.4(TTN):c.64370-1G>A rs775248181
NM_003319.4(TTN):c.65436dupG (p.Lys21813Glufs) rs886039145
NM_003319.4(TTN):c.69934_69935dupTA (p.Leu23314Hisfs) rs748382770
NM_003319.4(TTN):c.70210_70215delGAGTATinsAC (p.Glu23404Thrfs) rs1553515430
NM_003319.4(TTN):c.71311C>T (p.Arg23771Ter) rs869312085
NM_003319.4(TTN):c.73903delGinsCT (p.Asp24635Leufs) rs794729367
NM_003319.4(TTN):c.80383C>T (p.Gln26795Ter) rs1009131948
NM_004415.3(DSP):c.6954_6955delAG (p.Gly2319Serfs) rs1554108929
NM_004415.3(DSP):c.8188delC (p.Gln2730Serfs) rs886038929
NM_004572.3(PKP2):c.1034+1G>A rs869025496
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2509delA (p.Ser837Valfs) rs727504432
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_005359.5(SMAD4):c.1308+1G>A rs587781618
NM_005359.5(SMAD4):c.250-1G>C rs1555685149
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005902.3(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.3(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.3(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_024422.4(DSC2):c.1521-1G>A rs886039128
NM_030777.3(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_133378.4(TTN):c.56984delC (p.Pro18995Leufs) rs774395395
NM_133378.4(TTN):c.59933-1G>C rs886038831
NM_133378.4(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186Cysfs) rs587780494
NM_133378.4(TTN):c.65804del (p.Asn21935Ilefs) rs886038839
NM_133378.4(TTN):c.73636_73640delAAGAA (p.Lys24546Glnfs) rs886038928
NM_133378.4(TTN):c.81313C>T (p.Arg27105Ter) rs886038916
NM_133378.4(TTN):c.91792G>T (p.Glu30598Ter) rs886038825
NM_133379.4(TTN):c.*265+149735C>T rs794729275
NM_144573.3(NEXN):c.1918_1922delTACTT (p.Tyr640Thrfs) rs1222794437
NM_144573.3(NEXN):c.1949_1951delGAG (p.Gly650del) rs397517853
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_170707.2(LMNA):c.513+2T>G rs1553264668
NM_170707.2(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.3(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1608+5G>A rs267607539
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.3(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_198056.2(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_198056.2(SCN5A):c.2023+1G>A rs1553703211
NM_198056.2(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_198056.2(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.4140_4142delCAA (p.Asn1380del) rs794728922
NM_198056.2(SCN5A):c.4321G>C (p.Glu1441Gln) rs199473249
NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) rs199473263
NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) rs754221948
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924

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