ClinVar Miner

List of variants studied for cardiomyopathy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_001134363.3(RBM20):c.3452-9= rs7070640 0.96872
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908 0.91221
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_001105206.3(LAMA4):c.3283-15C>T rs2032568 0.77184
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser) rs2032567 0.77036
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077 0.74386
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_145046.5(CALR3):c.381G>A (p.Gln127=) rs3810198 0.66498
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His) rs1050348 0.66129
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) rs9305079 0.65389
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_016599.5(MYOZ2):c.247-18A>G rs11721566 0.58647
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658 0.56664
NM_004409.5(DMPK):c.581+6T>C rs1799894 0.53545
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=) rs2256191 0.47326
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_182914.3(SYNE2):c.4578-4T>A rs7146588 0.30679
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=) rs1050353 0.29327
NM_001105206.3(LAMA4):c.5326+6T>G rs3734289 0.24973
NM_001105206.3(LAMA4):c.5326+15A>C rs3734290 0.24942
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_000432.4(MYL2):c.132T>C (p.Ile44=) rs2301610 0.08171
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00183
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 0.00029
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.506-17C>T rs561595897 0.00016
NM_020774.4(MIB1):c.1092+3A>G rs372212766 0.00016
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_032578.4(MYPN):c.1725A>G (p.Lys575=) rs143213775 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) rs137948709 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=) rs147329431 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=) rs371488508 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) rs200830541 0.00004
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00004
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.654+18G>A rs758836172 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) rs782293373 0.00003
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000432.4(MYL2):c.222G>A (p.Pro74=) rs372644111 0.00002
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) rs1486464304 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe) rs751287217 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_001134363.3(RBM20):c.3316+9C>T rs796080099 0.00001
NM_001134363.3(RBM20):c.3378G>A (p.Val1126=) rs796430041 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_016599.5(MYOZ2):c.377-5C>T rs752100244 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000432.4(MYL2):c.353+20del rs3833910
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly) rs1555144465
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=) rs796631295
NM_001134363.3(RBM20):c.1430-20_1430-19del rs749067157
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) rs1554842740
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) rs1555692389
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=) rs184347775
NM_145046.5(CALR3):c.484A>G (p.Arg162Gly) rs1172919657

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