List of variants reported as benign for Congenital myasthenic syndrome by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*745G>A	rs1053751	0.81691
NM_000080.4(CHRNE):c.*144T>C	rs12936083	0.46557
NM_000751.3(CHRND):c.12A>G (p.Pro4=)	rs2245601	0.45730
NM_000080.4(CHRNE):c.*868G>T	rs7774	0.36651
NM_000751.3(CHRND):c.*885T>C	rs1004175	0.34980
NM_000751.3(CHRND):c.*52A>G	rs2767	0.34088
NM_000080.4(CHRNE):c.*837A>G	rs8834	0.34040
NM_000080.4(CHRNE):c.*437G>C	rs3514	0.19221
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)	rs33978919	0.18524
NM_000080.4(CHRNE):c.*61C>T	rs12940036	0.17963
NM_000080.4(CHRNE):c.917+15C>G	rs12942540	0.16257
NM_000080.4(CHRNE):c.*906G>C	rs9914357	0.15504
NM_000079.4(CHRNA1):c.960C>T (p.His320=)	rs2229957	0.08849
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)	rs55681486	0.07419
NM_000080.4(CHRNE):c.*65C>T	rs56067981	0.07414
NM_000751.3(CHRND):c.1047+9T>C	rs3762528	0.07349
NM_000080.4(CHRNE):c.345-7C>T	rs72835059	0.07330
NM_000080.4(CHRNE):c.1033-6C>T	rs2075763	0.06582
NM_000751.3(CHRND):c.*424C>T	rs4973046	0.06579
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)	rs33970119	0.03958
NM_000080.4(CHRNE):c.-8G>A	rs77481135	0.03561
NM_000080.4(CHRNE):c.*37G>A	rs2229199	0.03523
NM_000751.3(CHRND):c.120G>A (p.Lys40=)	rs55921262	0.03225
NM_000080.4(CHRNE):c.*43T>C	rs2229200	0.03101
NM_000080.4(CHRNE):c.*930T>G	rs116802199	0.02701
NM_000751.3(CHRND):c.*1025A>G	rs115132742	0.02647
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)	rs4790235	0.02635
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)	rs6739001	0.02064
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)	rs34563587	0.02026
NM_000079.4(CHRNA1):c.540+4G>C	rs112674580	0.01914
NM_000751.3(CHRND):c.*149A>G	rs114315112	0.01306
NM_000080.4(CHRNE):c.*610C>T	rs144554248	0.01282
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)	rs114454383	0.00816
NM_000079.4(CHRNA1):c.*426C>A	rs115375214	0.00774
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)	rs61737716	0.00561
NM_000751.3(CHRND):c.*1240T>C	rs77032539	0.00369
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)	rs77084550	0.00300
NM_000080.4(CHRNE):c.*748G>A	rs536398300	0.00111
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=)	rs372862723	0.00016
NM_000080.4(CHRNE):c.*743T>G	rs1053754
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	rs139171143
NM_000080.4(CHRNE):c.966C>T (p.Cys322=)	rs56377005

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