ClinVar Miner

List of variants in gene COL6A2 studied for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

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Total variants: 4
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NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
NM_001849.4(COL6A2):c.1970-3C>A rs201879417
NM_001849.4(COL6A2):c.2795C>T rs117725825

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