ClinVar Miner

List of variants in gene COL6A1 reported as likely pathogenic for Bethlem myopathy 1

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Total variants: 14
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NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1398+2T>G rs1569518481
NM_001848.2(COL6A1):c.1823-1G>T rs1569519030
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)
NM_001848.2(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.878G>A (p.Gly293Glu)
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-2A>G rs1556425717

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