ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 93
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn) rs746267533
NM_000256.3(MYBPC3):c.1097A>C (p.Gln366Pro) rs1451314369
NM_000256.3(MYBPC3):c.1218C>A (p.Ser406Arg) rs748558425
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala) rs749310275
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1457+4A>G rs886039119
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.150C>A (p.Ser50Arg) rs368918487
NM_000256.3(MYBPC3):c.1510_1512AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys) rs730880545
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1627_1629AAG[1] (p.Lys544del) rs1555122097
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922
NM_000256.3(MYBPC3):c.1765C>T (p.Arg589Cys) rs1329919535
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) rs730880554
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu) rs768049705
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
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.2125G>A (p.Asp709Asn) rs886039029
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg) rs760786216
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) rs727504335
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr) rs1555121215
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile) rs747774791
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val) rs768339148
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) rs727504360
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985
NM_000256.3(MYBPC3):c.2737+4_2737+7del rs1555120911
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met) rs374946555
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val) rs730880577
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) rs11570113
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) rs754115924
NM_000256.3(MYBPC3):c.3218G>A (p.Arg1073Gln) rs376598916
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015
NM_000256.3(MYBPC3):c.3329T>C (p.Met1110Thr) rs1321563978
NM_000256.3(MYBPC3):c.3347T>C (p.Leu1116Ser) rs886038832
NM_000256.3(MYBPC3):c.344G>A (p.Gly115Glu) rs1555123616
NM_000256.3(MYBPC3):c.3463A>G (p.Lys1155Glu) rs377352427
NM_000256.3(MYBPC3):c.3497C>G (p.Thr1166Ser) rs1555120318
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) rs730880596
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3703G>T (p.Val1235Leu) rs1555120162
NM_000256.3(MYBPC3):c.3746G>A (p.Gly1249Asp) rs727504259
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3778G>C (p.Gly1260Arg) rs1555120117
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674
NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg) rs730880608
NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser) rs886039212
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln) rs374630007
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385
NM_000256.3(MYBPC3):c.533T>A (p.Val178Glu) rs1555123426
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.654+5G>C rs397516066
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met) rs886039000
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) rs397516071
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile) rs368588523
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val) rs370941975
NM_000256.3(MYBPC3):c.872G>T (p.Gly291Val) rs1555122934
NM_000256.3(MYBPC3):c.884T>C (p.Phe295Ser) rs876661369
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454

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