List of variants studied for congenital myasthenic syndrome by Mendelics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	rs8187730	0.99621
NM_005677.4(COLQ):c.718-1383G>C	rs878945	0.47746
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)	rs17856697	0.24673
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	rs922548333	0.00001
NM_005677.4(COLQ):c.219+1G>C	rs149020371	0.00001
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)	rs2151097209
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)	rs1597618787
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)	rs983509465
NM_005677.4(COLQ):c.1195+2T>G	rs2125085333
NM_005677.4(COLQ):c.157dup (p.Leu53fs)	rs971863968
NM_020549.5(CHAT):c.1381G>A (p.Val461Met)	rs4838544
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	rs2123120184
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)	rs1600807788
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser)	rs762952740
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)	rs112039851
NM_198576.4(AGRN):c.4745-47_4753del	rs1570242061

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