ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 464
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.640G>A (p.Asp214Asn) rs769167548 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
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.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 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.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
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.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138 0.00003
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
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.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 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.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1457+5G>A rs727503202 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 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.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) rs730880140 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 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.3541C>G (p.Pro1181Ala) rs730880593 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 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.3740A>G (p.Asp1247Gly) rs1085307978 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile) rs397516045 0.00001
NM_000256.3(MYBPC3):c.406+1G>A rs1223603416 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 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_000011.9:g.(?_47358756)_47367811del
NC_000011.9:g.(?_47362467)_(47362574_?)del
NC_000011.9:g.(?_47362544)_(47368616_?)del
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
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.107del (p.Ala36fs)
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1091-1G>A rs730880143
NM_000256.3(MYBPC3):c.1091-2A>G rs2142862326
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1113_1116del (p.Ala372fs)
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.1133_1226+6delinsA rs2142861940
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1187G>A (p.Trp396Ter)
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs) rs1248588905
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000256.3(MYBPC3):c.1227-1G>A
NM_000256.3(MYBPC3):c.1227-1G>T rs113276889
NM_000256.3(MYBPC3):c.1227-39_1263del
NM_000256.3(MYBPC3):c.1280C>A (p.Ser427Ter)
NM_000256.3(MYBPC3):c.1285del (p.Ala429fs)
NM_000256.3(MYBPC3):c.1329T>A (p.Cys443Ter)
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser) rs727504279
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1351+2T>G rs397515897
NM_000256.3(MYBPC3):c.1352-1G>A
NM_000256.3(MYBPC3):c.1352-2_1355del rs2095890510
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) rs749310275
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) rs1565628078
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1419dup (p.Glu474Ter) rs2095890370
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.1449_1457+4del rs2142861325
NM_000256.3(MYBPC3):c.1457+2T>G rs112999777
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457_1457+1delinsCT
NM_000256.3(MYBPC3):c.1457_1457+25delinsC
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer) rs869025462
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>T (p.Arg495Leu) rs200411226
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly) rs375882485
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs) rs587782957
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.1526_1527del (p.Arg509fs) rs2142861049
NM_000256.3(MYBPC3):c.1573del (p.Tyr525fs)
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
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.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1624+3G>C rs730880690
NM_000256.3(MYBPC3):c.1625-1G>A rs869025466
NM_000256.3(MYBPC3):c.1625-2A>G rs112917345
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs) rs730880644
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.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer) rs1565627566
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.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.1791-2del
NM_000256.3(MYBPC3):c.1806del (p.Ile603fs) rs730880648
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.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1877C>G (p.Ser626Ter)
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.1927+1G>T rs2142859053
NM_000256.3(MYBPC3):c.1927+2T>C rs869025467
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) rs397515939
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+2del
NM_000256.3(MYBPC3):c.2068-1G>A rs2142857371
NM_000256.3(MYBPC3):c.2068-2A>G
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.208G>T (p.Glu70Ter) rs11570045
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs) rs869025460
NM_000256.3(MYBPC3):c.2148+1G>A rs1060499604
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2149-2A>C rs2142856729
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs) rs1555121467
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2240del (p.Gly747fs)
NM_000256.3(MYBPC3):c.2243dup (p.Tyr749fs) rs2142856598
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs) rs863225111
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241
NM_000256.3(MYBPC3):c.2291_2308+3del
NM_000256.3(MYBPC3):c.2294_2295del (p.Thr765fs) rs2142856521
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2302_2308+22del
NM_000256.3(MYBPC3):c.2308G>C (p.Asp770His) rs36211723
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.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2413+2T>A
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000256.3(MYBPC3):c.2414-2A>G
NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA rs1555121260
NM_000256.3(MYBPC3):c.241_244del (p.Val81fs) rs2142869406
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg) rs1338707268
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2449del (p.Arg817fs)
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro) rs397515964
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.2476del (p.Ile826fs) rs2095883614
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer) rs1595843640
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) rs397515972
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2542del (p.Ala848fs)
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.26-1G>T
NM_000256.3(MYBPC3):c.2602+1G>A
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2603-1G>A rs977277400
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2603-1G>T
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
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.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) rs367990952
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) rs2095881732
NM_000256.3(MYBPC3):c.2731_2737+19del rs2095881691
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2738-1G>A rs1555120792
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
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.2767del (p.Gly922_Leu923insTer) rs2142853009
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.2871del (p.Thr958fs) rs2095880923
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+1G>T
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-1G>A rs1409755826
NM_000256.3(MYBPC3):c.2906-1G>C rs1409755826
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2906_2994del
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.292+1del rs2142869314
NM_000256.3(MYBPC3):c.293-174_307del
NM_000256.3(MYBPC3):c.293-1G>C
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.2957_2958insT (p.Lys986fs)
NM_000256.3(MYBPC3):c.2965dup (p.Glu989fs) rs1595842017
NM_000256.3(MYBPC3):c.2994+1G>A rs2095879885
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
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.2995-2_2995-1del rs2142851672
NM_000256.3(MYBPC3):c.2995-58_3151delinsTACCAGGCC
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.3020G>A (p.Trp1007Ter)
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.306del (p.Met103fs) rs863225109
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
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.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3168del (p.Thr1057fs) rs760491068
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3184del (p.Val1062fs) rs1595841736
NM_000256.3(MYBPC3):c.3190+5G>C
NM_000256.3(MYBPC3):c.3191-11_3193del rs1565623216
NM_000256.3(MYBPC3):c.3191-1G>A rs2095879167
NM_000256.3(MYBPC3):c.3191-1G>C rs2095879167
NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs)
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3265_3269del (p.Pro1089fs)
NM_000256.3(MYBPC3):c.3268del (p.Gln1090fs) rs2095879053
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+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3331-26T>G rs2142850484
NM_000256.3(MYBPC3):c.3331-2A>G
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3412del (p.Arg1138fs) rs2095878612
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs) rs1565631381
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter) rs727503220
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) rs1565622703
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
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.3593_3627+20del
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr) rs727503170
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) rs786205470
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+2T>C rs1299079662
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3667_3668del (p.Glu1223fs) rs1595840834
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
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.3735del (p.Phe1246fs) rs397516038
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.3747_3748insGG (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3759dup (p.Arg1254fs) rs2095877700
NM_000256.3(MYBPC3):c.3763del (p.Ala1255fs) rs786204362
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3768_3771del (p.Asn1257fs) rs2142849245
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.3787del (p.Arg1263fs)
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3814+1G>A rs1057521823
NM_000256.3(MYBPC3):c.3814+2T>C rs869025470
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3815-2A>G
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.407-2A>G
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs) rs869025464
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.482C>G (p.Pro161Arg)
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.505+1G>C
NM_000256.3(MYBPC3):c.505+1G>T
NM_000256.3(MYBPC3):c.505+1dup
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.506-13_585delinsATT
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.560del (p.Pro187fs)
NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) rs730880622
NM_000256.3(MYBPC3):c.605del (p.Lys202fs) rs2095898456
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter) rs1595849603
NM_000256.3(MYBPC3):c.653_654insCTGGTGACCC (p.Lys218delinsAsnTrpTer) rs2095898363
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.655-2A>G rs1219818351
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.710A>G (p.Tyr237Cys)
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.772+2T>C
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000256.3(MYBPC3):c.773-2A>T rs1595848628
NM_000256.3(MYBPC3):c.773-7_773dup
NM_000256.3(MYBPC3):c.815del (p.Arg272fs)
NM_000256.3(MYBPC3):c.821+2dup
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
NM_000256.3(MYBPC3):c.851+1G>A rs876661368
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.852-2A>C
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.86del (p.Phe29fs) rs2142869802
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.897del (p.Lys301fs) rs1555122928
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.905+1G>A
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.926+1G>C rs767239679
NM_000256.3(MYBPC3):c.926+2T>C rs1595847941
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.927-8G>A
NM_000256.3(MYBPC3):c.927_928delGG rs886037902
NM_000256.3(MYBPC3):c.933_1090+396del
NM_000256.3(MYBPC3):c.93del (p.Glu32fs)
NM_000256.3:c.2855_3518del
NM_000256.3:c.2956_3519del

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.