ClinVar Miner

List of variants studied for collagen 6-related myopathy by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (15):

Bethlem myopathy 1A
Bethlem myopathy 1A; Collagen 6-related myopathy; Dystonia 27
Bethlem myopathy 1A; Dystonia 27
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Collagen 6-related myopathy; Dystonia 27
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis
Bethlem myopathy 2; Ullrich congenital muscular dystrophy
Collagen 6-related myopathy
Myosclerosis
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 1A
Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 2

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)	rs762882543	0.00001
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	rs794727419

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