ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
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.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NC_000011.10:g.47350083dup rs397516049 0.00001
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter) rs1400905582 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 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_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NC_000011.10:g.47332110del rs727503166
NC_000011.10:g.47332282_47332306del rs36212066
NC_000011.10:g.47333203dup rs730880672
NC_000011.10:g.47333236del rs727503172
NC_000011.10:g.47333332dup rs397516007
NC_000011.10:g.47333668delinsTT rs730880666
NC_000011.10:g.47335898_47335908del rs730880657
NC_000011.10:g.47337436_47337437delinsAGA rs397515975
NC_000011.10:g.47339379del rs397515947
NC_000011.10:g.47339718_47339719delinsC rs727503192
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347670del rs727503212
NC_000011.10:g.47348498_47348523dup rs786204329
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1021_1028del (p.Tyr340_Gly341insTer)
NM_000256.3(MYBPC3):c.1049del (p.Lys350fs) rs2142864164
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs) rs2495770501
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1091-2A>C rs2142862326
NM_000256.3(MYBPC3):c.1091-2A>G rs2142862326
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) rs1555122462
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs) rs730880688
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) rs1233894123
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000256.3(MYBPC3):c.1235_1236delTT rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter) rs730880533
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) rs2142861729
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1308C>A (p.Cys436Ter) rs759826878
NM_000256.3(MYBPC3):c.1316del (p.Gly439fs) rs730880710
NM_000256.3(MYBPC3):c.1350del (p.Glu451fs) rs2495763967
NM_000256.3(MYBPC3):c.1351+1G>C rs727503204
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1404delG rs886037900
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) rs730880539
NM_000256.3(MYBPC3):c.1428_1431del (p.Glu476fs) rs2495763359
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs) rs876657703
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) rs730880541
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.1483del (p.Arg495fs) rs1555122196
NM_000256.3(MYBPC3):c.1531del (p.His511fs) rs2495762791
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1595_1596delinsT (p.Gly532fs) rs2495762508
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1597C>T (p.Gln533Ter) rs1337113054
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1625-2A>G rs112917345
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1711G>T (p.Glu571Ter) rs2495761294
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1754_1755dup (p.Pro586fs)
NM_000256.3(MYBPC3):c.1755_1756del (p.Pro586fs)
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs) rs2095889088
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1792delG rs730880647
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs) rs764743402
NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs) rs1555121907
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter) rs1555121871
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs) rs2495756497
NM_000256.3(MYBPC3):c.1960_1971delinsT (p.Arg654fs) rs2495756385
NM_000256.3(MYBPC3):c.1981del (p.Val661fs)
NM_000256.3(MYBPC3):c.2015del (p.Pro672fs) rs2495756173
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2079_2085del (p.Pro694fs) rs2495754785
NM_000256.3(MYBPC3):c.2082_2086del (p.Arg696fs) rs2495754771
NM_000256.3(MYBPC3):c.2105dup (p.Glu703fs) rs2495754669
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2133G>A (p.Trp711Ter)
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter) rs886039028
NM_000256.3(MYBPC3):c.2214del (p.Glu739fs)
NM_000256.3(MYBPC3):c.2221del (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs) rs2495752203
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.230del (p.Gly77fs) rs2495785913
NM_000256.3(MYBPC3):c.2310del (p.Asp770fs) rs1555121331
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2359_2366del (p.Cys788fs)
NM_000256.3(MYBPC3):c.2364C>A (p.Cys788Ter) rs2495750440
NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter) rs1057517939
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2375G>A (p.Trp792Ter) rs2495750393
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2401C>T (p.Gln801Ter)
NM_000256.3(MYBPC3):c.2445_2446insGGTA (p.Tyr816fs) rs2495749850
NM_000256.3(MYBPC3):c.2451del (p.Trp818fs) rs1555121247
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs) rs2495749637
NM_000256.3(MYBPC3):c.2503del (p.Arg835fs) rs2495749625
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2519_2521delinsCA (p.Val840fs) rs2495749552
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs) rs2095900581
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs) rs1555120956
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs) rs2495746525
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs) rs1555120927
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs) rs2495746259
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2749del (p.Val917fs) rs2142853029
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2807del (p.Thr936fs) rs2495744494
NM_000256.3(MYBPC3):c.2825del (p.Phe942fs) rs1265547595
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs) rs2142852888
NM_000256.3(MYBPC3):c.2869dup (p.Thr957fs) rs876661365
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+1G>C rs397515991
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.2946del (p.Ile983fs) rs2495742763
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs) rs2495783948
NM_000256.3(MYBPC3):c.2990del (p.Phe997fs) rs2495742629
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.29C>A (p.Ser10Ter) rs2495786759
NM_000256.3(MYBPC3):c.3066dup (p.Asn1023fs)
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter) rs1214223476
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3240dup (p.Asn1081Ter) rs2495740202
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs) rs2495740196
NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs) rs2495740075
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs) rs730880670
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3369_3370insA (p.Cys1124fs) rs2495738849
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3448dup (p.Arg1150fs)
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs) rs2495738554
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3471dup (p.Val1158fs) rs2495738531
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3491-1G>A rs2495738246
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3607_3611dup (p.Arg1205fs) rs2495737827
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3658_3667del (p.Asp1220fs)
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer) rs2495736417
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs) rs863225272
NM_000256.3(MYBPC3):c.3720dup (p.Arg1241Ter) rs2495736329
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3746dup (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3747dup (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.379dup (p.Leu127fs) rs2495783500
NM_000256.3(MYBPC3):c.385G>T (p.Glu129Ter)
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
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.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.528_532del (p.Arg177fs) rs2495780899
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.577A>T (p.Lys193Ter) rs2495780602
NM_000256.3(MYBPC3):c.588G>A (p.Trp196Ter)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer) rs2495780114
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter) rs1555123138
NM_000256.3(MYBPC3):c.688del (p.Gln230fs) rs2142866326
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.775del (p.Ala259fs) rs2495775452
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.862G>T (p.Glu288Ter) rs1439623464
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter) rs2142864321
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846

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