ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1227-1G>T rs113276889
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) rs1565628078
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.3191-11_3193del rs1565623216
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.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.927_928delGG rs886037902

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