ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.1090+453C>T rs2095893477
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.2079_2082dup (p.Ala695fs) rs1595844714
NM_000256.3(MYBPC3):c.2738-2A>T rs1595842632
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178

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