ClinVar Miner

List of variants studied for Bethlem myopathy 1A by Solve-RD Consortium

Included ClinVar conditions (8):

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

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_001848.3(COL6A1):c.1741-6G>A	rs200334019	0.00016
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_001848.3(COL6A1):c.958-2A>G	rs1556425717

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