ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy 1 by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001849.3(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_004369.3(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076
NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814
NM_004369.3(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058

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