List of variants reported as pathogenic for Congenital myasthenic syndrome 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)	rs121908923	0.00005
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	rs139574075	0.00002
NM_005677.4(COLQ):c.1195+1G>A	rs755782087	0.00001
NM_005677.4(COLQ):c.219+1G>C	rs149020371	0.00001
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter)	rs104893734

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