ClinVar Miner

List of variants in gene COLQ reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
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.106+196G>A rs17041264 0.03830
NM_005677.4(COLQ):c.367-50G>A rs56085664 0.03189
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_005677.4(COLQ):c.367-140C>G rs17484530 0.02239
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.718-1179C>T rs113265832 0.01264
NM_005677.4(COLQ):c.815-243C>T rs113877474 0.01209
NM_005677.4(COLQ):c.465+52A>G rs79479403 0.01197
NM_005677.4(COLQ):c.321+208A>G rs144961978 0.01080
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.528+131C>T rs114767801 0.00857
NM_005677.4(COLQ):c.600+52G>A rs147070802 0.00850
NM_005677.4(COLQ):c.220-205T>C rs143600399 0.00746
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.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 0.00640
NM_005677.4(COLQ):c.393+11C>T rs909353 0.00630
NM_005677.4(COLQ):c.717+26G>A rs111933330 0.00501
NM_005677.4(COLQ):c.600+22T>C rs113512775 0.00494
NM_005677.4(COLQ):c.1195+328G>A rs142984157 0.00481
NM_005677.4(COLQ):c.322-247C>T rs375782854 0.00353
NM_005677.4(COLQ):c.555+31G>A rs185906278 0.00246
NM_005677.4(COLQ):c.321+27C>T rs73146167 0.00157
NM_005677.4(COLQ):c.393+37G>A rs200865113 0.00054
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.107-9263G>C rs905126365 0.00011
NM_005677.4(COLQ):c.429T>C (p.Pro143=) rs775589975 0.00003
NM_005677.4(COLQ):c.637-5T>C rs771329801 0.00001
NC_000003.12:g.15521761_15521768del rs199798913
NM_005677.4(COLQ):c.1298+190G>A
NM_005677.4(COLQ):c.291G>C (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.367-9C>T rs1575477020
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

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