List of variants reported as pathogenic for myasthenic syndrome, congenital, 1B, fast-channel by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile)	rs137852804	0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	rs374391312	0.00001
NM_000079.4(CHRNA1):c.235-353G>A	rs2105350984
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu)	rs137852807
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	rs137852805
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)	rs137852806

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