List of variants in gene combination C17orf107, 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.917+15C>G	rs12942540	0.16257
NM_000080.4(CHRNE):c.46+64G>A	rs12602789	0.08447
NM_000080.4(CHRNE):c.345-7C>T	rs72835059	0.07330
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.53G>T (p.Gly18Val)	rs4790235	0.02635
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)	rs34563587	0.02026
NM_000080.4(CHRNE):c.918-6C>G	rs141408756	0.00277
NM_000080.4(CHRNE):c.344+18C>T	rs201821934	0.00145
NM_000080.4(CHRNE):c.918-14T>C	rs375376258	0.00131
NM_000080.4(CHRNE):c.555C>T (p.Asp185=)	rs137952354	0.00096
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)	rs202198207	0.00008
NM_001145536.2(C17orf107):c.*247dup	rs772869952
NM_001145536.2(C17orf107):c.*671G>T	rs202127846
NM_001145536.2(C17orf107):c.*671del	rs2151097507

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