ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Total variants: 9
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1622dup (p.Glu542Glyfs) rs1555122143
NM_000256.3(MYBPC3):c.2190delC (p.Lys731Argfs) rs1555121467
NM_000256.3(MYBPC3):c.221delCinsTT (p.Ala74Valfs) rs1555123743
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053

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