ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NM_000256.3(MYBPC3):c.*6_*16del rs727504359
NM_000256.3(MYBPC3):c.-10G>A rs567307744
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885
NM_000256.3(MYBPC3):c.1091-18_1091-8del rs397515886
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) rs397515887
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys) rs397515890
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535
NM_000256.3(MYBPC3):c.1226+6T>C rs397515892
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848
NM_000256.3(MYBPC3):c.1264A>C (p.Thr422Pro) rs727503206
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr) rs371167525
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu) rs397515898
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp) rs397515901
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly) rs397515902
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457+6_1457+25del rs727503201
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1458-7C>T rs397515904
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.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510_1512AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1535T>A (p.Leu512Gln) rs397515909
NM_000256.3(MYBPC3):c.1535T>C (p.Leu512Pro) rs397515909
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589
NM_000256.3(MYBPC3):c.1586C>G (p.Thr529Ser) rs397515911
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp) rs730880549
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) rs727503198
NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr) rs397515919
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe) rs397515924
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087
NM_000256.3(MYBPC3):c.1790+5G>A rs727504489
NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr) rs397515928
NM_000256.3(MYBPC3):c.1811_1813ACG[1] (p.Asp605del) rs397515930
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.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
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.184A>C (p.Thr62Pro) rs377225516
NM_000256.3(MYBPC3):c.1897+5G>A rs397515936
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu) rs727504250
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile) rs876657869
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp) rs200399246
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His) rs397515953
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992
NM_000256.3(MYBPC3):c.2309-21G>A rs727505287
NM_000256.3(MYBPC3):c.2312T>C (p.Val771Ala) rs397515961
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu) rs1060499878
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) rs727504574
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) rs727504335
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2436G>T (p.Lys812Asn) rs727504251
NM_000256.3(MYBPC3):c.2439G>C (p.Lys813Asn) rs727505264
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr) rs876657870
NM_000256.3(MYBPC3):c.25+3A>C rs397515968
NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys) rs397515969
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met) rs376936056
NM_000256.3(MYBPC3):c.2525A>G (p.Tyr842Cys) rs397515971
NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys) rs727504345
NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser) rs397515976
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036
NM_000256.3(MYBPC3):c.26-10G>A rs397515978
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr) rs1555120949
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) rs727504360
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn) rs397515983
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys) rs397515984
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) rs397515986
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp) rs727503183
NM_000256.3(MYBPC3):c.2839C>A (p.His947Asn) rs397515988
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282
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.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val) rs727504942
NM_000256.3(MYBPC3):c.296A>C (p.Lys99Thr) rs1555123639
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg) rs727503177
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys) rs368180702
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln) rs372003333
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.3065G>A (p.Arg1022His) rs397516000
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser) rs397516002
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875
NM_000256.3(MYBPC3):c.3190G>A (p.Asp1064Asn) rs727505191
NM_000256.3(MYBPC3):c.326C>T (p.Ala109Val) rs397516011
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173
NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile) rs397516012
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp) rs375116558
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667
NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala) rs727505286
NM_000256.3(MYBPC3):c.3490+6G>A rs397516021
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys) rs397516024
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) rs397516025
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033
NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu) rs397516034
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) rs528940575
NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val) rs727503169
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro) rs727503168
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser) rs370958401
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) rs727504722
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3797_3799GCC[1] (p.Arg1267del) rs727504933
NM_000256.3(MYBPC3):c.3815-10T>G rs397516043
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) rs727504318
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) rs397516051
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.505+6T>G rs397516055
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln) rs374630007
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala) rs727505168
NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn) rs113941605
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met) rs727503218
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys) rs727503215
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063
NM_000256.3(MYBPC3):c.654+5G>A rs397516066
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) rs397516071
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser) rs727503214
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075
NM_000256.3(MYBPC3):c.821+3G>C rs727503213
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=) rs371711564
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp) rs727504234
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.852-6C>T rs397516078
NM_000256.3(MYBPC3):c.853G>A (p.Asp285Asn) rs727504523
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln) rs373204728
NM_000256.3(MYBPC3):c.926+4A>G rs397516081
NM_000256.3(MYBPC3):c.931T>A (p.Ser311Thr) rs397516084
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086

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