ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 180
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
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_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
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.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NC_000011.10:g.47332110del rs727503166 0.00001
NC_000011.10:g.47335872C>T rs398123280 0.00001
NC_000011.10:g.47342825C>T rs727503202 0.00001
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632 0.00001
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly) rs1085307978 0.00001
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile) rs397516045 0.00001
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000256.3(MYBPC3):c.851+2T>C rs1194615408 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NC_000011.10:g.47332705G>C rs730880592
NC_000011.10:g.47339702_47339705delinsCC rs397515943
NC_000011.10:g.47342575C>G rs730880690
NC_000011.10:g.47347670del rs727503212
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1029_1032del (p.Asp344fs) rs1595847753
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1187G>A (p.Trp396Ter)
NM_000256.3(MYBPC3):c.1223G>A (p.Ser408Asn) rs2095891230
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1285del (p.Ala429fs)
NM_000256.3(MYBPC3):c.1423T>C (p.Cys475Arg) rs760864668
NM_000256.3(MYBPC3):c.1457+2T>G rs112999777
NM_000256.3(MYBPC3):c.1457+5G>T
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
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.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter) rs780012957
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu) rs730880694
NM_000256.3(MYBPC3):c.1687del (p.Val563fs) rs876661363
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.1809del (p.Ile603fs) rs1064794471
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs) rs2142859359
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1897+4A>C rs730880557
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.192dup (p.Thr65fs)
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2068-2A>G
NM_000256.3(MYBPC3):c.208G>T (p.Glu70Ter) rs11570045
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs) rs1555121467
NM_000256.3(MYBPC3):c.2308+5G>A
NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu) rs730880580
NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg) rs730880564
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn) rs730880581
NM_000256.3(MYBPC3):c.2413+1G>T
NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA rs1555121260
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer) rs1595843640
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) rs1565624607
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) rs367990952
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2738-1G>A rs1555120792
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) rs730880576
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2869dup (p.Thr957fs) rs876661365
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-1G>C rs1409755826
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2912del (p.Pro971fs)
NM_000256.3(MYBPC3):c.293-2A>G
NM_000256.3(MYBPC3):c.2941C>T (p.Gln981Ter) rs1282789659
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.2965dup (p.Glu989fs) rs1595842017
NM_000256.3(MYBPC3):c.2994+2T>C rs727503176
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
NM_000256.3(MYBPC3):c.3150del (p.Asn1051fs) rs1595841767
NM_000256.3(MYBPC3):c.3157G>T (p.Glu1053Ter) rs1436261457
NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3217dupC rs730880668
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu) rs730880590
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>G
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3588C>A (p.Tyr1196Ter) rs1263496800
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) rs786205470
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3667_3668del (p.Glu1223fs) rs1595840834
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.3729dup (p.Cys1244fs) rs1177781586
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
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.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs) rs786204362
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
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.3781G>T (p.Glu1261Ter) rs730880141
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3814+1G>A rs1057521823
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) rs730880622
NM_000256.3(MYBPC3):c.653_654insCTGGTGACCC (p.Lys218delinsAsnTrpTer) rs2095898363
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.851+1G>A rs876661368
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.926+1G>C rs767239679
NM_000256.3(MYBPC3):c.927-8G>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.