ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (13):

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
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 1A
Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 2
Ullrich congenital muscular dystrophy 1B
Ullrich congenital muscular dystrophy 1C
Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2; 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.955-2A>C	rs1555873084
NM_004369.4(COL6A3):c.6283-2A>G	rs797044988

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