List of variants reported as pathogenic for congenital myasthenic syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.1195+1G>A	rs755782087	0.00001
NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter)	rs2064735979
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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