ClinVar Miner

List of variants studied for Miyoshi myopathy by GenomeConnect - Invitae Patient Insights Network

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)	rs147139414	0.00059
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	rs143053635	0.00054
NM_213599.3(ANO5):c.2004del (p.Leu669fs)	rs886043172

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