List of variants reported as pathogenic for congenital myasthenic syndrome by Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.1196G>A (p.Arg399His)	rs375272767	0.00001
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)	rs1597613479
NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)	rs1969955431
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	rs5030818
NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile)	rs536042715
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)	rs121912823
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)	rs1828806340

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