ClinVar Miner

List of variants in gene COLQ reported by Preventiongenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.600+40G>A rs2305616 0.46616
NM_005677.4(COLQ):c.394-27C>G rs2305612 0.38369
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.1298+35C>A rs1077827 0.11659
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.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.107-19G>A rs200529572 0.00141
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_005677.4(COLQ):c.1298+34T>A rs71308146
NM_005677.4(COLQ):c.1338C>A (p.Ile446=) rs73818504

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