List of variants in gene CHRNE reported as benign for Congenital myasthenic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*144T>C	rs12936083	0.46557
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.1305A>G (p.Arg435=)	rs55681486	0.07419
NM_000080.4(CHRNE):c.*65C>T	rs56067981	0.07414
NM_000080.4(CHRNE):c.*37G>A	rs2229199	0.03523
NM_000080.4(CHRNE):c.*43T>C	rs2229200	0.03101
NM_000080.4(CHRNE):c.*610C>T	rs144554248	0.01282
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)	rs114454383	0.00816
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)	rs145456588	0.00133
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=)	rs372862723	0.00016
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)	rs570378547
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	rs139171143
NM_000080.4(CHRNE):c.966C>T (p.Cys322=)	rs56377005

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