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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.*218C>T	rs79539026	0.00579
NM_000080.4(CHRNE):c.*6A>G	rs55806270	0.00487
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)	rs148304857	0.00413
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)	rs2229194	0.00305
NM_000080.4(CHRNE):c.1220-5G>A	rs188564977	0.00287
NM_000080.4(CHRNE):c.918-6C>G	rs141408756	0.00277
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu)	rs192195094	0.00240
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)	rs41265127	0.00239
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)	rs150638770	0.00220
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)	rs151193377	0.00197
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)	rs114463490	0.00175
NM_000751.3(CHRND):c.*365C>A	rs112940737	0.00145
NM_000080.4(CHRNE):c.*858G>C	rs375660349	0.00090
NM_000751.3(CHRND):c.*676G>A	rs183259359	0.00032
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)	rs189442556	0.00008
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)	rs370770111
NM_000751.3(CHRND):c.*547G>C	rs2343841

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