ClinVar Miner

List of variants studied for Miyoshi myopathy by GenomeConnect, ClinGen

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	rs115013641	0.00257
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)	rs755829878	0.00002
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)	rs1554929295
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	rs776859202
NM_213599.3(ANO5):c.989dup (p.Leu330fs)	rs398124626

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