ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome 12 by Invitae

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Total variants: 5
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NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_002056.4(GFPT1):c.*22C>A rs199678034
NM_002056.4(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) rs1558749457

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