ClinVar Miner

List of variants in gene MYBPC3 reported by Center for Human Genetics,University of Leuven

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Total variants: 51
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HGVS dbSNP
NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)del
NM_000256.3(MYBPC3):c.1142T>A (p.Ile381Asn) rs1565628519
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr) rs1019697151
NM_000256.3(MYBPC3):c.1227-1G>T rs113276889
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) rs1565628078
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2541_2542CG[3] (p.Val849fs)
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys) rs374976635
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3191-11_3193del rs1565623216
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs) rs1565631381
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) rs1565622703
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.927-2A>G rs397516082
NM_000256.3(MYBPC3):c.927_928delGG rs886037902

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