ClinVar Miner

List of variants in gene COL12A1 reported as likely pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Gene type:
ClinVar version:
Total variants: 6
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NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093

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