ClinVar Miner

List of variants studied for Miyoshi myopathy by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (9):

Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Miyoshi myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Qualitative or quantitative defects of dysferlin; Miyoshi myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 3
Miyoshi myopathy

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Minimum conflict level: Report conflict between different conditions
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)	rs398123799	0.00005
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)	rs754889480

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