List of variants studied for Myasthenic syndrome, congenital, 1B, fast-channel

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T	rs2646164	0.99734
NM_000079.4(CHRNA1):c.1003-53A>G	rs2646159	0.87287
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.190-5del	rs34695580
NM_000079.4(CHRNA1):c.235-353G>A	rs2105350984
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe)	rs752761320
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000079.4(CHRNA1):c.43+59G>T	rs7560774
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
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)	rs483353045
NM_000751.2(CHRND):c.[1319A>G];[73G>T]

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