ClinVar Miner

List of variants reported as pathogenic for Congenital myasthenic syndrome by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 3
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NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_021971.2(GMPPB):c.1000G>A rs397509422

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