ClinVar Miner

List of variants reported as not provided for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001849.3(COL6A2):c.*56T>G rs148337125
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
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139

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