ClinVar Miner

List of variants in gene MYBPC3 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623 0.00006

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