ClinVar Miner

List of variants reported as likely pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Invitae

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Total variants: 5
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NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112

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