ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

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Total variants: 7
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NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) rs374315921
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671
NM_001849.4(COL6A2):c.2795C>T rs117725825

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