ClinVar Miner

List of variants in gene COLQ reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1299-31G>A rs111284326 0.01009
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_005677.4(COLQ):c.394-34C>T rs144158633 0.00744
NM_005677.4(COLQ):c.1196-45C>T rs75838637 0.00734
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.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.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
NM_005677.4(COLQ):c.450C>T (p.Gly150=) rs771279997 0.00001
NM_005677.4(COLQ):c.718-5G>A rs748890722 0.00001
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.291G>T (p.Ser97=) rs115201284

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