ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
LRG_386t1:c.3315del
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1028delC (p.Thr343Metfs) rs730880686
NM_000256.3(MYBPC3):c.1038_1042dupCGGCA (p.Met348Thrfs) rs730880336
NM_000256.3(MYBPC3):c.1069_1072delCGCGinsGC (p.Arg357Alafs) rs730880687
NM_000256.3(MYBPC3):c.1084dupA (p.Ser362Lysfs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1090+2T>G rs730880634
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1120dupC (p.Gln374Profs) rs730880688
NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391Glyfs) rs730880689
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890
NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter) rs730880637
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1223+2T>G rs730880641
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531
NM_000256.3(MYBPC3):c.1235_1236delTT (p.Phe412Terfs) rs397515894
NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter) rs730880533
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1351+1G>C rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1357_1358delCC (p.Pro453Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1377delC (p.Leu460Trpfs) rs786204339
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1404delG (p.Gln469Serfs) rs886037900
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) rs730880539
NM_000256.3(MYBPC3):c.1410_1411delGG (p.Val471Glyfs) rs730880642
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) rs730880542
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter) rs1057517920
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1521delG (p.Gln508Argfs) rs1555122177
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1577_1580dupCACT (p.Cys528Thrfs) rs730880712
NM_000256.3(MYBPC3):c.1595delG (p.Gly532Alafs) rs730880640
NM_000256.3(MYBPC3):c.1621C>T (p.Gln541Ter) rs1064794209
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624+5G>A rs730880691
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter) rs121909374
NM_000256.3(MYBPC3):c.1641_1642delGT (p.Tyr548Profs) rs398123279
NM_000256.3(MYBPC3):c.1700_1701delAG (p.Glu567Glyfs) rs727503197
NM_000256.3(MYBPC3):c.172delG (p.Ala58Profs) rs730880662
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1734delG (p.Lys579Argfs) rs730880646
NM_000256.3(MYBPC3):c.1776_1777delGT (p.Ser593Profs) rs730880713
NM_000256.3(MYBPC3):c.177_187delAGAGGGCACAC (p.Glu60Alafs) rs397515925
NM_000256.3(MYBPC3):c.1791-2A>C rs112179534
NM_000256.3(MYBPC3):c.1792delG (p.Val598Serfs) rs730880647
NM_000256.3(MYBPC3):c.1800delA (p.Lys600Asnfs) rs397515926
NM_000256.3(MYBPC3):c.1806delC (p.Ile603Leufs) rs730880648
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605Alafs) rs764743402
NM_000256.3(MYBPC3):c.1823_1830delCTGCCGACinsA (p.Pro608Glnfs) rs1555121924
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) rs730880554
NM_000256.3(MYBPC3):c.182delG (p.Gly61Alafs) rs730880663
NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) rs730880649
NM_000256.3(MYBPC3):c.1892delT (p.Phe631Serfs) rs397515933
NM_000256.3(MYBPC3):c.1895delT (p.Met632Argfs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1999_2000delCTinsG (p.Leu667Aspfs) rs727503192
NM_000256.3(MYBPC3):c.2058delT (p.Ile687Serfs) rs1064793642
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096delC (p.Pro699Glnfs) rs397515947
NM_000256.3(MYBPC3):c.2157_2158delTG (p.Cys719Terfs) rs1064793429
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.2221delG (p.Ala741Glnfs) rs730880650
NM_000256.3(MYBPC3):c.2267delC (p.Pro756Leufs) rs730880651
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2308+1G>T rs112738974
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2311dupG (p.Val771Glyfs) rs397515960
NM_000256.3(MYBPC3):c.236dupA (p.Tyr79Terfs) rs1057517939
NM_000256.3(MYBPC3):c.2372_2373insG (p.Trp792Valfs) rs397515963
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237delC (p.Tyr79Terfs) rs730880664
NM_000256.3(MYBPC3):c.2382delG (p.Pro795Leufs) rs730880714
NM_000256.3(MYBPC3):c.2391C>G (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp) rs730880566
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter)
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2455_2459delATGCG (p.Met819Alafs) rs730880652
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2534_2538delGCGTC (p.Arg845Leufs) rs397515973
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2543delC (p.Ala848Glyfs) rs730880715
NM_000256.3(MYBPC3):c.2556_2557delCGinsTCT (p.Gly853Leufs) rs397515975
NM_000256.3(MYBPC3):c.2556delC (p.Ile852Metfs) rs727503186
NM_000256.3(MYBPC3):c.2558delG (p.Gly853Alafs) rs397515977
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2604delT (p.Ser871Alafs) rs730880655
NM_000256.3(MYBPC3):c.2610delC (p.Ser871Alafs) rs397515979
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2700_2703dupCCTG (p.Asp902Profs) rs1555120927
NM_000256.3(MYBPC3):c.2716delG (p.Val906Trpfs) rs886041320
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter) rs1555120920
NM_000256.3(MYBPC3):c.2737delT (p.Cys913Alafs) rs730880658
NM_000256.3(MYBPC3):c.2738-1G>A rs1555120792
NM_000256.3(MYBPC3):c.2744delA (p.Glu915Glyfs) rs730880661
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) rs730880576
NM_000256.3(MYBPC3):c.2780_2781delCA (p.Thr927Ilefs) rs727504265
NM_000256.3(MYBPC3):c.2792dupT (p.Lys932Glufs) rs730880716
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267
NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) rs397515987
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.2875_2876delAC (p.Thr959Glyfs) rs727503182
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2894_2905+4del rs730880717
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter) rs730880701
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3079delGinsAA (p.Asp1027Lysfs) rs730880666
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042Lysfs) rs1064793202
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486
NM_000256.3(MYBPC3):c.3190+3delG rs730880667
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3191-3C>G rs1064793891
NM_000256.3(MYBPC3):c.3192dupC (p.Lys1065Glnfs) rs397516007
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076Valfs) rs397516008
NM_000256.3(MYBPC3):c.324delT (p.Ala109Profs) rs730880721
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter) rs779650200
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3288delG (p.Glu1096Aspfs) rs727503172
NM_000256.3(MYBPC3):c.3302_3303delCA (p.Thr1101Serfs) rs730880671
NM_000256.3(MYBPC3):c.3321dupG (p.Lys1108Glufs) rs730880672
NM_000256.3(MYBPC3):c.3327delC (p.Met1110Trpfs) rs730880719
NM_000256.3(MYBPC3):c.3330+2T>C rs387906397
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3467dupA (p.Pro1157Alafs) rs730880720
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158Profs) rs730880675
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161Tyrfs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.350delC (p.Pro117Leufs) rs397516023
NM_000256.3(MYBPC3):c.3514_3517dupTATA (p.Lys1173Ilefs) rs1555120309
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp) rs1057517769
NM_000256.3(MYBPC3):c.3624delC (p.Lys1209Serfs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.362delC (p.Pro121Argfs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter) rs730880605
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.436dupA (p.Thr146Asnfs) rs397516049
NM_000256.3(MYBPC3):c.453delT (p.Asp151Glufs) rs730880679
NM_000256.3(MYBPC3):c.455_456delAC (p.Asp152Alafs) rs730880680
NM_000256.3(MYBPC3):c.459delC (p.Ile154Leufs) rs397516052
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.586delT (p.Trp196Glyfs) rs730880681
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.627_637delGCACGACAGCT (p.His210Argfs) rs1555123389
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.722dupT (p.Ser242Valfs) rs730880683
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) rs727503212
NM_000256.3(MYBPC3):c.884delT (p.Phe295Serfs) rs730880684
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-1G>A rs587776700
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309Thrfs) rs730880678
NM_000256.3(MYBPC3):c.927-2A>G rs397516082
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.978delG (p.Gln327Argfs) rs1064793536
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846

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