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    1. ClingenBaseline 25 Oct 2026
      H (karachi

      Case#: Nawaz_Proband_H (karachi) (Pakistan resident)14 y/o)

      DiseaseAssertion: Hemophilia B (no severity assertion made)

      FamilyInfo: None

      ParentalTesting: None

      CasePresentingHPOs: N/A

      CaseNotHPOs: N/A

      CasePreviousTesting: None

      Gene: F9

      Variant: NM_000133.4:c.127C>T (p.Arg43Trp)

      ClinVar: 811505

      CAID: CA414435537

      gnomAD: Absent/Not Reported

      Gene:F9 CaseInfo InheritancePattern:X-Linked DiseaseEntity:FactorIXDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA414435537 ParentalTest:Unknown DiseaseSeverity:Unknown inferred_gene_hgnc:3551 inferred_gene_source:CAID ClinGen Coag Fac Def VCEP
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    idosi.org/wjms/3(2)08/1.pdf