List of variants reported as likely pathogenic for Congenital myasthenic syndrome 4A by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1033-2A>T	rs786204773	0.00001
NM_000080.4(CHRNE):c.1220-1G>A	rs373710822	0.00001
NM_000080.4(CHRNE):c.1220-2A>C	rs1309292778	0.00001
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778	0.00001
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)	rs1385608948	0.00001
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)	rs760565441	0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)	rs759226183	0.00001
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)	rs979787967	0.00001
NC_000017.10:g.(?_4801070)_(4804202_?)del
NC_000017.10:g.(?_4804800)_(4805809_?)dup
NM_000080.4(CHRNE):c.1032+1G>A	rs1458613529
NM_000080.4(CHRNE):c.1033-2del	rs2494853019
NM_000080.4(CHRNE):c.1216_1219+19del	rs760623071
NM_000080.4(CHRNE):c.1220-1G>C	rs373710822
NM_000080.4(CHRNE):c.1220-6_1227del	rs1567635954
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)	rs1969834618
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)	rs561591789
NM_000080.4(CHRNE):c.189+1G>A	rs1970029155
NM_000080.4(CHRNE):c.190-2A>G	rs2507562728
NM_000080.4(CHRNE):c.235-2A>G	rs1597622118
NM_000080.4(CHRNE):c.345-1G>A	rs2507560746
NM_000080.4(CHRNE):c.345-2A>G	rs2151098412
NM_000080.4(CHRNE):c.345-2A>T	rs2151098412
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)	rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)	rs483353045
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)	rs2507560224
NM_000080.4(CHRNE):c.46+1G>T	rs746199600
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)	rs121909516
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	rs121909516
NM_000080.4(CHRNE):c.500+2T>C	rs1597621216
NM_000080.4(CHRNE):c.501-10_504dup	rs768552387
NM_000080.4(CHRNE):c.501-1G>C	rs2507557604
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)	rs779816027
NM_000080.4(CHRNE):c.583G>C (p.Asp195His)	rs774425374
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)	rs774425374
NM_000080.4(CHRNE):c.601+1G>T	rs2507556876
NM_000080.4(CHRNE):c.602-1G>A	rs2507555321
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)	rs2151097307
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)	rs1555546765
NM_000080.4(CHRNE):c.803-1G>T	rs2507553591
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)	rs370019023
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	rs121909515

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