ClinVar Miner

List of variants in gene GFPT1 reported as likely pathogenic for Congenital myasthenic syndrome 12

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Total variants: 6
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NM_002056.4(GFPT1):c.1051+1G>A rs1553389102
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.408+5G>A rs1558762013
NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) rs775399768

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