List of variants in gene COLQ reported as likely benign by GeneDx

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_005677.4(COLQ):c.106+196G>A	rs17041264	0.04076
NM_005677.4(COLQ):c.367-50G>A	rs56085664	0.03189
NM_005677.4(COLQ):c.367-140C>G	rs17484530	0.02285
NM_005677.4(COLQ):c.107-272G>A	rs115874570	0.02058
NM_005677.4(COLQ):c.220-133G>C	rs112813198	0.01365
NM_005677.4(COLQ):c.465+52A>G	rs79479403	0.01197
NM_005677.4(COLQ):c.718-1179C>T	rs113265832	0.01182
NM_005677.4(COLQ):c.815-243C>T	rs113877474	0.01122
NM_005677.4(COLQ):c.321+208A>G	rs144961978	0.01061
NM_005677.4(COLQ):c.1299-31G>A	rs111284326	0.00942
NM_005677.4(COLQ):c.600+52G>A	rs147070802	0.00830
NM_005677.4(COLQ):c.528+131C>T	rs114767801	0.00812
NM_005677.4(COLQ):c.220-205T>C	rs143600399	0.00746
NM_005677.4(COLQ):c.1196-45C>T	rs75838637	0.00734
NM_005677.4(COLQ):c.394-34C>T	rs144158633	0.00692
NM_005677.4(COLQ):c.466-165G>A	rs76346770	0.00664
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)	rs116373583	0.00649
NM_005677.4(COLQ):c.220-130G>A	rs78676221	0.00612
NM_005677.4(COLQ):c.393+11C>T	rs909353	0.00595
NM_005677.4(COLQ):c.717+26G>A	rs111933330	0.00501
NM_005677.4(COLQ):c.1195+328G>A	rs142984157	0.00481
NM_005677.4(COLQ):c.600+22T>C	rs113512775	0.00460
NM_005677.4(COLQ):c.322-247C>T	rs375782854	0.00353
NM_005677.4(COLQ):c.555+31G>A	rs185906278	0.00239
NM_005677.4(COLQ):c.321+27C>T	rs73146167	0.00157
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.393+37G>A	rs200865113	0.00054
NM_005677.4(COLQ):c.107-9263G>C	rs905126365	0.00011
NM_005677.4(COLQ):c.815-5C>T	rs771406985	0.00003
NM_005677.4(COLQ):c.718-11C>A	rs779127197	0.00001
NC_000003.12:g.15521761_15521768del	rs199798913
NC_000003.12:g.15521783CT[1]
NM_005677.4(COLQ):c.1298+190G>A	rs150553139
NM_005677.4(COLQ):c.393+224_393+226del	rs573659582
NM_005677.4(COLQ):c.393+268C>G	rs116448541
NM_005677.4(COLQ):c.465+102C>T	rs183968684

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