ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863

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