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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.917+15C>G	rs12942540	0.16257
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.6A>G (p.Ala2=)	rs202198207	0.00008

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