ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
NM_001145536.2(C17orf107):c.*1457A>T
NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_005677.4(COLQ):c.279C>A (p.Cys93Ter)
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_173660.5(DOK7):c.1457del (p.Pro486fs)

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