List of variants reported as likely pathogenic for Congenital myasthenic syndrome by Natera, Inc.

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_000080.4(CHRNE):c.1220-1G>A	rs373710822	0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	rs767507908	0.00001
NM_005055.5(RAPSN):c.531+1G>T	rs1421354085	0.00001
NM_000080.4(CHRNE):c.1220-1G>C	rs373710822
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)	rs1597621396
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	rs760022829

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