ClinVar Miner

List of variants in gene MYBPC3 studied for Cardiomyopathy

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Gene type:
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Total variants: 235
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HGVS dbSNP
NM_000256.3(MYBPC3):c.-11C>T rs762719022
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer) rs730880689
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1173C>T (p.Asp391=) rs377328238
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu) rs748689012
NM_000256.3(MYBPC3):c.1222A>G (p.Ser408Gly) rs730880638
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1316G>A (p.Gly439Asp) rs763045718
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+4G>A rs777487971
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=) rs538072263
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) rs730880540
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1458-7C>T rs397515904
NM_000256.3(MYBPC3):c.145A>T (p.Ile49Phe) rs760058908
NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=) rs1565627976
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906
NM_000256.3(MYBPC3):c.1506G>T (p.Arg502=) rs1481158714
NM_000256.3(MYBPC3):c.1510_1512AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792
NM_000256.3(MYBPC3):c.1578A>T (p.Ala526=) rs766721220
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1719T>C (p.Val573=) rs397515921
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile) rs368482358
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser) rs730880552
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1850T>C (p.Val617Ala) rs898001027
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1919C>T (p.Pro640Leu) rs755244836
NM_000256.3(MYBPC3):c.1928-3C>T rs1415195455
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.2005C>A (p.Leu669Met) rs1565626407
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=) rs558051480
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=) rs1168755518
NM_000256.3(MYBPC3):c.202G>A (p.Val68Met) rs1199851911
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=) rs397515946
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=) rs876657511
NM_000256.3(MYBPC3):c.2149-5C>G rs36211722
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln) rs756102881
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=) rs370676057
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) rs730880698
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2382G>A (p.Pro794=) rs1565625459
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) rs730880714
NM_000256.3(MYBPC3):c.2391C>T (p.Tyr797=) rs727504864
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) rs727504574
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2447A>G (p.Tyr816Cys) rs1565625347
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys) rs375322174
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2543del (p.Ala848fs) rs730880715
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile) rs730880572
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val) rs768339148
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) rs730880655
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985
NM_000256.3(MYBPC3):c.2737+10C>T rs1447236020
NM_000256.3(MYBPC3):c.2737+9C>T rs1565624501
NM_000256.3(MYBPC3):c.2776_2777CA[2] (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2876C>A (p.Thr959Lys) rs730880697
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282
NM_000256.3(MYBPC3):c.2894_2905+4del rs730880717
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) rs747974933
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly) rs397515994
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999
NM_000256.3(MYBPC3):c.3079delGinsAA rs730880666
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
NM_000256.3(MYBPC3):c.3130C>G (p.Gln1044Glu) rs1565623421
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3147T>A (p.Ile1049=) rs747495607
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220
NM_000256.3(MYBPC3):c.315_320CCCTGC[4] (p.106_107PA[4])
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3191-4G>A rs764672273
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3300_3301CA[1] (p.Thr1101fs) rs730880671
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup) rs730880673
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3433G>A (p.Val1145Ile) rs747606711
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs) rs730880675
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3606T>C (p.Cys1202=) rs1032233055
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) rs730880596
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3628-45T>A rs1565622514
NM_000256.3(MYBPC3):c.3628-6T>C rs1057520329
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3657G>T (p.Leu1219=) rs770157084
NM_000256.3(MYBPC3):c.3668A>G (p.Glu1223Gly) rs372821359
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3723A>G (p.Arg1241=) rs1565622343
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.3765C>G (p.Ala1255=) rs1354801986
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166
NM_000256.3(MYBPC3):c.3815-16delG rs1565621965
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) rs727504318
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049
NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) rs779493486
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.485A>T (p.Gln162Leu) rs1565631087
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.505+6T>C rs397516055
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln) rs374630007
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.568A>G (p.Lys190Glu) rs777665200
NM_000256.3(MYBPC3):c.594C>A (p.Asp198Glu) rs1318614905
NM_000256.3(MYBPC3):c.602G>A (p.Ser201Asn) rs1395414085
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.654+2_654+4dupTGG rs730880682
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val) rs1336201335
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.711C>G (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396
NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys) rs749970304
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu) rs1565630281
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly) rs187455402
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564
NM_000256.3(MYBPC3):c.852-1G>A rs368121566
NM_000256.3(MYBPC3):c.87C>T (p.Phe29=) rs764557472
NM_000256.3(MYBPC3):c.897del (p.Lys301fs) rs1555122928
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
NM_000256.3(MYBPC3):c.922C>T (p.Pro308Ser) rs1565629496
NM_000256.3(MYBPC3):c.923C>T (p.Pro308Leu) rs1330127507
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846
NM_000256.3:c.3315delG rs1565623093
NM_000256.3:c.929insG

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