ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 510
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
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.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.1224-52G>A rs786204336 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.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 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.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 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.1188G>A (p.Trp396Ter) rs397515890 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.2012_2013insGG (p.Pro672fs) rs2095886347 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) rs1163861044 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 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.2865del (p.Val956fs) rs2095880935 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.3253G>T (p.Glu1085Ter) rs397516010 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.3491-2A>T rs397516022 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.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049 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
NC_000011.10:g.(?_47331845)_(47336011_?)del
NC_000011.10:g.(?_47331851)_(47348561_?)del
NC_000011.10:g.(?_47331851)_(47352667_?)del
NC_000011.10:g.(?_47332546)_(47334030_?)del
NC_000011.10:g.(?_47335857)_(47338759_?)del
NC_000011.10:g.(?_47347406)_(47352667_?)del
NC_000011.10:g.(?_47348566)_(47351515_?)del
NC_000011.10:g.(?_47349774)_(47351505_?)del
NC_000011.10:g.47335210del rs2142853045
NC_000011.10:g.47336007_47336016del
NC_000011.10:g.47336012del
NC_000011.10:g.47350113del rs771005018
NC_000011.9:g.(?_47353422)_(47356780_?)del
NC_000011.9:g.(?_47353958)_(47355505_?)del
NC_000011.9:g.(?_47353958)_47355505del
NC_000011.9:g.(?_47357408)_(47360250_?)del
NC_000011.9:g.(?_47357408)_(47374198_?)del
NC_000011.9:g.(?_47357416)_(47360310_?)del
NC_000011.9:g.(?_47360865)_(47369466_?)del
NC_000011.9:g.(?_47363401)_47367757del
NC_000011.9:g.(?_47364109)_(47374198_?)del
NC_000011.9:g.(?_47364119)_(47374208_?)del
NC_000011.9:g.(?_47371305)_(47374198_?)del
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.1020del (p.Gln339_Tyr340insTer)
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) rs730880686
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs) rs2142864164
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>C
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1091-?_2308+?del
NM_000256.3(MYBPC3):c.1096C>T (p.Gln366Ter)
NM_000256.3(MYBPC3):c.1116dup (p.Tyr373fs)
NM_000256.3(MYBPC3):c.1119C>G (p.Tyr373Ter) rs2095891411
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs) rs2142869736
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs) rs1565628486
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) rs1233894123
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs) rs2142862199
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1223+2T>C rs730880641
NM_000256.3(MYBPC3):c.1223+2T>G rs730880641
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.124_127del (p.Trp42fs) rs730880659
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) rs2142861729
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) rs397515895
NM_000256.3(MYBPC3):c.1277_1298del (p.Cys426fs)
NM_000256.3(MYBPC3):c.1278C>A (p.Cys426Ter) rs746770543
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs) rs1595846475
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) rs727505152
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln) rs786204338
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1353del (p.Glu451fs) rs2142861512
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1359del (p.Val454fs) rs863225271
NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs) rs2142861454
NM_000256.3(MYBPC3):c.1364del (p.Leu455fs)
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1378_1379dup (p.Leu460fs)
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp) rs1595846365
NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter) rs1415753419
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs) rs1565628062
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
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.1458-1G>T rs397515903
NM_000256.3(MYBPC3):c.1460_1624+67del
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.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter) rs730880545
NM_000256.3(MYBPC3):c.1569del (p.His524fs) rs2095889902
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>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs) rs2095889815
NM_000256.3(MYBPC3):c.1624+1G>A rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>T rs1252584025
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter) rs121909374
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs) rs727504248
NM_000256.3(MYBPC3):c.162del (p.Lys54fs) rs864622224
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.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.165C>G (p.Tyr55Ter)
NM_000256.3(MYBPC3):c.1666del (p.Val556fs)
NM_000256.3(MYBPC3):c.1699G>T (p.Glu567Ter)
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs) rs727503197
NM_000256.3(MYBPC3):c.1724del (p.Gly575fs)
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter) rs2095889156
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs) rs730880646
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs) rs1595845888
NM_000256.3(MYBPC3):c.1775dup (p.Ser593fs)
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter) rs1410935154
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1790+1G>C
NM_000256.3(MYBPC3):c.1792delG rs730880647
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1808_1821del (p.Ile603fs)
NM_000256.3(MYBPC3):c.1816_1842del (p.Val606_Tyr614del) rs1595845565
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs) rs2142859359
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.182del (p.Gly61fs) rs730880663
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs) rs2142859289
NM_000256.3(MYBPC3):c.1842del (p.Asp613_Tyr614insTer)
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1903A>T (p.Lys635Ter) rs2142859071
NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs) rs2095887873
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter) rs936188645
NM_000256.3(MYBPC3):c.1960dup (p.Arg654fs)
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs) rs1565626409
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2047del (p.Trp683fs)
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2063del (p.Thr688fs)
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer) rs2142857362
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2130del (p.Glu710fs)
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) rs730880696
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.218del (p.Pro73fs)
NM_000256.3(MYBPC3):c.2195del (p.Asp732fs)
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2230_2233del (p.Glu744fs)
NM_000256.3(MYBPC3):c.2236G>T (p.Glu746Ter)
NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC (p.Gly747fs) rs2095884984
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs) rs1060501478
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs) rs1565625777
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.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs) rs1565625473
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer) rs730880664
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) rs730880714
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2416dup (p.Tyr806fs)
NM_000256.3(MYBPC3):c.2436_2437delinsTT (p.Lys812_Lys813delinsAsnTer)
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs) rs1595843758
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2460del (p.Arg820_Leu821insTer)
NM_000256.3(MYBPC3):c.2469del (p.Phe823fs)
NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter) rs2142855351
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.25+1G>C
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs) rs2095883508
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter) rs397515969
NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs) rs1219930764
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
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.2526del (p.Val841_Tyr842insTer) rs1595843640
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs) rs2095900581
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2545_2550delinsTCAT (p.Val849fs)
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) rs727503186
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs) rs397515977
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs) rs1555121172
NM_000256.3(MYBPC3):c.256del (p.Ser86fs)
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs) rs1060501481
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs) rs1595843549
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs) rs1064792936
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
NM_000256.3(MYBPC3):c.2604_2607del (p.Pro870fs)
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) rs730880655
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
NM_000256.3(MYBPC3):c.2645_2646del (p.Val881_Ser882insTer)
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs) rs1555120937
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter) rs1555120920
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
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.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter) rs367729718
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2770_2857dup (p.Gly953fs)
NM_000256.3(MYBPC3):c.2774_2775del (p.Glu925fs)
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2801dup (p.Pro935fs)
NM_000256.3(MYBPC3):c.2812del (p.Ala938fs) rs2142852944
NM_000256.3(MYBPC3):c.2825_2826delinsAA (p.Phe942Ter)
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) rs786204352
NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs) rs2142852868
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs) rs1565624090
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+2T>A rs2095880858
NM_000256.3(MYBPC3):c.2905+2T>C
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter) rs868819340
NM_000256.3(MYBPC3):c.2936_2939del (p.Leu979fs)
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs) rs397515995
NM_000256.3(MYBPC3):c.2948_2951del (p.Ile983fs)
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter) rs1555120651
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2980del (p.Leu994fs) rs2142851880
NM_000256.3(MYBPC3):c.2981del (p.Leu994fs)
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
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.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3079G>AA rs730880666
NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs) rs2095899755
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs) rs1060501475
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs) rs2142851443
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs) rs727503174
NM_000256.3(MYBPC3):c.317del (p.Pro106fs) rs1555123629
NM_000256.3(MYBPC3):c.318del (p.Ala107fs) rs2142868794
NM_000256.3(MYBPC3):c.3190+1del rs2142851321
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3211del (p.Asp1071fs)
NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs) rs2142851045
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs) rs2142850980
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.3242dup (p.Asn1081fs)
NM_000256.3(MYBPC3):c.324del (p.Ala109fs) rs730880721
NM_000256.3(MYBPC3):c.3258G>A (p.Trp1086Ter) rs1595841552
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.329del (p.Pro110fs)
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs) rs2142850807
NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs) rs2142850741
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+2T>C 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.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3359dup (p.Arg1121fs)
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3382_3388del (p.Glu1128fs)
NM_000256.3(MYBPC3):c.3402del (p.Tyr1135fs)
NM_000256.3(MYBPC3):c.3408C>G (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter) rs2142850286
NM_000256.3(MYBPC3):c.3440_3441del (p.Gly1146_Phe1147insTer)
NM_000256.3(MYBPC3):c.3466G>T (p.Glu1156Ter)
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs) rs730880675
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) rs876657706
NM_000256.3(MYBPC3):c.3523dup (p.Leu1175fs)
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs) rs2095878299
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs) rs1595841063
NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter) rs761545914
NM_000256.3(MYBPC3):c.3595_3596del (p.Met1199fs)
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3600_3609dup (p.Val1204fs)
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs) rs1060501484
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2T>G rs1299079662
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs) rs1060501480
NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs) rs2142849434
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
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.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs) rs2142849315
NM_000256.3(MYBPC3):c.3748del (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3752dup (p.Tyr1251Ter)
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) rs397516039
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
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.3779del (p.Gly1260fs)
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) rs1595840648
NM_000256.3(MYBPC3):c.395dup (p.Ser133fs)
NM_000256.3(MYBPC3):c.401_405del (p.Pro134fs)
NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter) rs2142868665
NM_000256.3(MYBPC3):c.405del (p.Ser137fs) rs1555123597
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.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.440del (p.Pro147fs) rs1595849931
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.451del (p.Asp151fs)
NM_000256.3(MYBPC3):c.453del (p.Asp151fs) rs730880679
NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs) rs730880680
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.462del (p.Ile154fs)
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.506-2A>C rs397516057
NM_000256.3(MYBPC3):c.506-3_506dup rs1555123438
NM_000256.3(MYBPC3):c.514dup (p.Ile172fs) rs2142867855
NM_000256.3(MYBPC3):c.529del (p.Arg177fs)
NM_000256.3(MYBPC3):c.533del (p.Val178fs) rs727503217
NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs) rs2142867804
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.554del (p.Lys185fs) rs2095898569
NM_000256.3(MYBPC3):c.565del (p.Val189fs) rs2142867765
NM_000256.3(MYBPC3):c.568_569del (p.Lys190fs) rs2095898532
NM_000256.3(MYBPC3):c.569del (p.Lys190fs)
NM_000256.3(MYBPC3):c.573G>A (p.Trp191Ter)
NM_000256.3(MYBPC3):c.586del (p.Trp196fs) rs730880681
NM_000256.3(MYBPC3):c.603del (p.Ser201fs)
NM_000256.3(MYBPC3):c.611_618delinsT (p.Gly204fs)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.619dup (p.Leu207fs)
NM_000256.3(MYBPC3):c.623_626dup (p.His210fs)
NM_000256.3(MYBPC3):c.627_637del (p.His210fs) rs1555123389
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.653del (p.Lys218fs)
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs) rs1060501479
NM_000256.3(MYBPC3):c.660del (p.Leu221fs)
NM_000256.3(MYBPC3):c.669del (p.Glu223fs)
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.681del (p.Asp228fs) rs2095896870
NM_000256.3(MYBPC3):c.688C>T (p.Gln230Ter)
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs) rs2142866256
NM_000256.3(MYBPC3):c.743_746del (p.Asp248fs)
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>T (p.Glu258Ter)
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.803dup (p.Ser269fs)
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.821+1G>T rs397516073
NM_000256.3(MYBPC3):c.821+2T>A rs397516076
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.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.887_891del (p.Ser296fs) rs2142865197
NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter) rs2142865199
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.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs) rs730880678
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
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.989del (p.Pro330fs)
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter) rs727503209
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
Single allele

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