Hypothesis

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Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Genetics

1
1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  Supplementary Data, Table 2
  
  Variant noted to be present in 4 individuals
  
  Variant: NM_000257.3(MYH7):c.438G>T (p.Lys146Asn)
  
  ClinVar: 43013, https://www.ncbi.nlm.nih.gov/clinvar/variation/43013/
  
  gnomAD: n/a
  
  SupplementalData ClinVarID:43013 NoInheritanceAssertion inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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SupplementalData

inferred_gene_source:RefSeq

inferred_gene_hgnc:7577

Cardiomyopathy Annotation

ClinVarID:43013

NoInheritanceAssertion

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ClingenBaseline

URL

ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001671