ClinVar Miner

List of variants reported as likely pathogenic for X-linked Emery-Dreifuss muscular dystrophy by Baylor Genetics

Included ClinVar conditions (7):

Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 6
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy
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
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; X-linked scapuloperoneal muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)	rs782764813
NM_000117.3(EMD):c.450-1G>A	rs2522790106
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)	rs1603271659

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