List of variants reported as likely pathogenic for congenital myasthenic syndrome 2A

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000747.3(CHRNB1):c.199-2A>C
NM_000747.3(CHRNB1):c.353+1del
NM_000747.3(CHRNB1):c.354-1G>A	rs1597749210
NM_000747.3(CHRNB1):c.58+1G>A
NM_000747.3(CHRNB1):c.611-1G>C
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)	rs1908762801
NM_000747.3(CHRNB1):c.757_820+135del
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro)	rs2150842362

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