List of variants reported as benign for Congenital myasthenic syndrome 5 by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.*344C>T	rs2278961	0.46594
NM_005677.4(COLQ):c.*365A>T	rs2278962	0.44285
NM_005677.4(COLQ):c.*1001G>A	rs3846128	0.37381
NM_005677.4(COLQ):c.-46G>A	rs73033051	0.09699
NM_005677.4(COLQ):c.*515C>T	rs10154896	0.06822
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)	rs6782980	0.05224
NM_005677.4(COLQ):c.366+7A>G	rs750387	0.04329
NM_005677.4(COLQ):c.556-15A>G	rs57376327	0.02543
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)	rs55866379	0.02373
NM_005677.4(COLQ):c.*492G>A	rs116231717	0.00917
NM_005677.4(COLQ):c.393+11C>T	rs909353	0.00630
NM_005677.4(COLQ):c.*994G>A	rs77521642	0.00563
NM_005677.4(COLQ):c.*1395C>T	rs3274
NM_005677.4(COLQ):c.1338C>A (p.Ile446=)	rs73818504

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