ClinVar Miner

List of variants reported as likely benign for Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001

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