List of variants in gene COLQ reported as benign for congenital myasthenic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.718-1383G>C	rs878945	0.47746
NM_005677.4(COLQ):c.466-31C>T	rs2305615	0.47165
NM_005677.4(COLQ):c.815-1064G>A	rs7620149	0.46664
NM_005677.4(COLQ):c.600+40G>A	rs2305616	0.46616
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.394-27C>G	rs2305612	0.38369
NM_005677.4(COLQ):c.*1001G>A	rs3846128	0.37381
NM_005677.4(COLQ):c.529-23A>G	rs924812	0.37081
NM_005677.4(COLQ):c.528+22A>G	rs3816526	0.37075
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.291G>A (p.Ser97=)	rs115201284	0.00908
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)	rs116373583	0.00649
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.789G>A (p.Pro263=)	rs150061580	0.00251
NM_005677.4(COLQ):c.107-19G>A	rs200529572	0.00141
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)	rs189427175	0.00131
NM_005677.4(COLQ):c.922G>A (p.Val308Met)	rs184245561	0.00093
NM_005677.4(COLQ):c.1277C>A (p.Thr426Lys)	rs536042715	0.00052
NM_005677.4(COLQ):c.300C>T (p.Ser100=)	rs2305611	0.00026
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)	rs116828761	0.00021
NM_005677.4(COLQ):c.438C>T (p.Ile146=)	rs757867510	0.00021
NM_005677.4(COLQ):c.814+11C>T	rs575840341	0.00009
NM_005677.4(COLQ):c.*1395C>T	rs3274
NM_005677.4(COLQ):c.107-20C>T	rs757966613
NM_005677.4(COLQ):c.1338C>A (p.Ile446=)	rs73818504
NM_005677.4(COLQ):c.322-16del	rs772475794

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