ClinVar Miner

List of variants reported as not provided for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

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Total variants: 3

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HGVS	dbSNP
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417
NM_004369.3(COL6A3):c.6354+1G>A	rs886042883

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