List of variants reported as pathogenic for congenital myasthenic syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00149
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005677.4(COLQ):c.1195+1G>A	rs755782087	0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)	rs121908924	0.00001
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)	rs1564932829
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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