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  2. www.sciencedirect.com www.sciencedirect.com
    Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations

      Supplementary Data table 1

      Variant noted to be present in 3 individuals

      Variant: NM_000257.3(MYH7):c.976G>C (p.Ala326Pro)

      ClinVar: 43117, https://www.ncbi.nlm.nih.gov/clinvar/variation/43117/

      gnomAD: 0.00008846, https://gnomad.broadinstitute.org/variant/14-23899792-C-G

      ClinVarID:43117 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    Tags

    • inferred_gene_hgnc:7577
    • Cardiomyopathy Annotation
    • SupplementalData
    • inferred_gene_source:RefSeq
    • ClinVarID:43117

    Annotators

    • ClingenBaseline

    URL

    sciencedirect.com/science/article/pii/S0002914916311092
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