ClinVar Miner

List of variants studied for cardiomyopathy by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105 0.00008
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter) rs370153729 0.00007
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val) rs149576470 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001276345.2(TNNT2):c.601-7G>A rs369759523 0.00004
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) rs772138289 0.00004
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg) rs759726867 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys) rs765617616 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_003673.4(TCAP):c.317G>A (p.Arg106His) rs576098128 0.00003
NM_020297.4(ABCC9):c.4512+778C>A rs572721907 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr) rs749017586 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000335.5(SCN5A):c.5294T>C (p.Met1765Thr) rs752476527 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001035.3(RYR2):c.2360T>G (p.Leu787Arg) rs1251442610 0.00002
NM_001105206.3(LAMA4):c.105C>G (p.Asp35Glu) rs572035776 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His) rs759347532 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.1580T>C (p.Leu527Pro) rs761466191 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 0.00001
NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu) rs759225115 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg) rs730880156 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001035.3(RYR2):c.8968C>T (p.Leu2990Phe) rs746439954 0.00001
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568 0.00001
NM_001103.4(ACTN2):c.1369C>T (p.Arg457Cys) rs769126818 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_004006.3(DMD):c.395A>G (p.Gln132Arg) rs751455994 0.00001
NM_014000.3(VCL):c.1309G>A (p.Glu437Lys) rs765607137 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_022114.4(PRDM16):c.1286G>A (p.Gly429Asp) rs749740251 0.00001
NC_000011.10:g.47332282_47332306del rs36212066
NC_000011.10:g.47333332dup rs397516007
NC_000011.10:g.47339379del rs397515947
NC_000011.10:g.47347670del rs727503212
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.1227-1G>C rs113276889
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1359del (p.Val454fs) rs863225271
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) rs786204345
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val) rs896073779
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
NM_000256.3(MYBPC3):c.2533C>A (p.Arg845Ser) rs727504345
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs) rs727504371
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) rs397516000
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del) rs1595841732
NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter) rs779650200
NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159fs) rs1595841206
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3624delC rs397516029
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3642G>T (p.Trp1214Cys) rs368765949
NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg) rs1595840788
NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs) rs863225272
NM_000256.3(MYBPC3):c.3728C>G (p.Pro1243Arg) rs863225266
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.931T>C (p.Ser311Pro) rs397516084
NM_000257.4(MYH7):c.1013T>A (p.Val338Glu) rs397516087
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1478T>A (p.Met493Lys) rs786205905
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
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.2225C>A (p.Ala742Glu) rs786205907
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.3062C>T (p.Thr1021Ile) rs1892569850
NM_000257.4(MYH7):c.3064A>G (p.Lys1022Glu) rs1595081245
NM_000257.4(MYH7):c.3170G>A (p.Gly1057Asp) rs1298412196
NM_000257.4(MYH7):c.3246-3C>A rs112287277
NM_000257.4(MYH7):c.3325A>G (p.Lys1109Glu) rs1429196201
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.556G>C (p.Val186Leu) rs786205906
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.937A>T (p.Ile313Phe) rs1323103660
NM_000257.4(MYH7):c.952A>C (p.Thr318Pro) rs1566536436
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000258.3(MYL3):c.466G>C (p.Val156Leu) rs199474707
NM_000335.5(SCN5A):c.589G>T (p.Asp197Tyr) rs1553605667
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe) rs773216333
NM_000363.5(TNNI3):c.440T>C (p.Val147Ala) rs2085712229
NM_000363.5(TNNI3):c.496T>C (p.Ser166Pro) rs1599909123
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn) rs1060503103
NM_000363.5(TNNI3):c.550-1G>A rs1555863017
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) rs755846732
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2229dup (p.Leu744fs) rs1956121988
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val) rs769951937
NM_001035.3(RYR2):c.4452C>A (p.Asn1484Lys) rs1291160405
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr) rs373193260
NM_001035.3(RYR2):c.8794T>C (p.Tyr2932His) rs1573466838
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) rs553309602
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.68225-1G>C rs1575854773
NM_001267550.2(TTN):c.8576C>T (p.Ser2859Leu) rs1574564600
NM_001276345.2(TNNT2):c.480C>A (p.Asn160Lys) rs786205908
NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys) rs483352833
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu) rs397516479
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001281740.3(FHOD3):c.1646+1G>A rs2036163874
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001330.5(CTF1):c.293C>T (p.Pro98Leu) rs1567331279
NM_001927.4(DES):c.376G>C (p.Val126Leu)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002471.4(MYH6):c.3193dup (p.Gln1065fs) rs863225269
NM_002471.4(MYH6):c.4241C>T (p.Ser1414Phe) rs863225267
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.5687C>T (p.Ser1896Phe) rs1209697861
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003476.5(CSRP3):c.322del (p.Ser108fs) rs1590103399
NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly) rs770760020
NM_003476.5(CSRP3):c.93C>G (p.His31Gln) rs863225265
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del) rs1221886757
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003803.4(MYOM1):c.1737dup (p.Tyr580fs) rs1598726218
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter) rs1581816089
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu) rs1581823824
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys) rs1595761404
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg) rs762580653
NM_007078.3(LDB3):c.689+3870C>T rs1028583921
NM_014000.3(VCL):c.863G>C (p.Ser288Thr) rs138270989
NM_016203.4(PRKAG2):c.1376C>T (p.Ala459Val) rs1806096948
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_032578.4(MYPN):c.1600+4A>G rs1589577356
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_144573.4(NEXN):c.1063G>C (p.Asp355His) rs1553239999

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