ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484

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