ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic for Cardiomyopathy

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Total variants: 12
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.897del (p.Lys301fs) rs1555122928

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