ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.1580T>C (p.Leu527Pro) rs761466191 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) rs786204345
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val) rs896073779
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2341A>G (p.Ser781Gly) rs2095884011
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2533C>A (p.Arg845Ser) rs727504345
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) rs397516000
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del) rs1595841732
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3642G>T (p.Trp1214Cys) rs368765949
NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg) rs1595840788
NM_000256.3(MYBPC3):c.3728C>G (p.Pro1243Arg) rs863225266
NM_000256.3(MYBPC3):c.931T>C (p.Ser311Pro) rs397516084

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