ClinVar Miner

List of variants studied 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: 11
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HGVS dbSNP
NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001849.3(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
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.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222

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