ClinVar Miner

List of variants in gene COLQ studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.718-1268A>G rs878946 0.49884
NM_005677.4(COLQ):c.718-1084T>C rs2345106 0.49759
NM_005677.4(COLQ):c.718-1074G>A rs6783160 0.49734
NM_005677.4(COLQ):c.815-2298T>C rs7628975 0.49049
NM_005677.4(COLQ):c.955-175A>G rs11128745 0.48753
NM_005677.4(COLQ):c.718-1383G>C rs878945 0.47746
NM_005677.4(COLQ):c.394-137C>T rs13095087 0.47385
NM_005677.4(COLQ):c.556-139G>C rs28632773 0.47325
NM_005677.4(COLQ):c.466-31C>T rs2305615 0.47165
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.321+170A>G rs1983085 0.44606
NM_005677.4(COLQ):c.*365A>T rs2278962 0.44285
NM_005677.4(COLQ):c.394-185A>G rs13074638 0.43899
NM_005677.4(COLQ):c.106+226A>G rs6774922 0.43774
NM_005677.4(COLQ):c.814+87C>T rs3732722 0.43129
NM_005677.4(COLQ):c.955-186C>T rs12494919 0.42367
NC_000003.12:g.15521850T>C rs3806660 0.42079
NM_005677.4(COLQ):c.107-9329T>G rs2605396 0.41038
NM_005677.4(COLQ):c.394-27C>G rs2305612 0.38369
NM_005677.4(COLQ):c.528+112G>A rs924811 0.37961
NM_005677.4(COLQ):c.1196-326C>T rs2345105 0.37486
NM_005677.4(COLQ):c.*1001G>A rs3846128 0.37381
NM_005677.4(COLQ):c.321+308G>T rs2124491 0.37312
NM_005677.4(COLQ):c.1196-206A>G rs3773459 0.37222
NM_005677.4(COLQ):c.367-167C>A rs2255897 0.37123
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.393+240G>A rs909354 0.37064
NM_005677.4(COLQ):c.1196-216T>C rs3773458 0.36107
NM_005677.4(COLQ):c.367-129A>C rs2290538 0.24864
NC_000003.12:g.15521761C>G rs9836565 0.20379
NM_005677.4(COLQ):c.1298+35C>A rs1077827 0.11659
NM_005677.4(COLQ):c.1075-82T>C rs28538922 0.11216
NM_005677.4(COLQ):c.-46G>A rs73033051 0.09699
NM_005677.4(COLQ):c.107-9004A>C rs58156300 0.09249
NM_005677.4(COLQ):c.637-119G>A rs905647 0.08793
NM_005677.4(COLQ):c.637-153C>A rs2305618 0.08109
NM_005677.4(COLQ):c.*515C>T rs10154896 0.06822
NM_005677.4(COLQ):c.465+257T>C rs9877336 0.06024
NM_005677.4(COLQ):c.955-339C>T rs138157007 0.06009
NM_005677.4(COLQ):c.1196-221G>A rs3773457 0.05907
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_005677.4(COLQ):c.106+239G>T rs73816249 0.04449
NM_005677.4(COLQ):c.466-214G>A rs75395973 0.04392
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_005677.4(COLQ):c.106+196G>A rs17041264 0.03830
NC_000003.12:g.15521750T>C rs370901328 0.03428
NM_005677.4(COLQ):c.367-50G>A rs56085664 0.03189
NM_005677.4(COLQ):c.637-243T>C rs11921826 0.03074
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.1195+219G>A rs56366273 0.02348
NM_005677.4(COLQ):c.1074+172_1074+203dup rs139329020 0.02262
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.1195+145C>T rs112017662 0.01980
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.789G>A (p.Pro263=) rs150061580 0.00251
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.107-19G>A rs200529572 0.00141
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_005677.3(COLQ):c.-121G>A rs113510832 0.00076
NM_005677.4(COLQ):c.393+37G>A rs200865113 0.00054
NM_005677.4(COLQ):c.*421G>A rs533015053 0.00044
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His) rs756508281 0.00013
NM_005677.4(COLQ):c.107-9263G>C rs905126365 0.00011
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp) rs116503231 0.00011
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NC_000003.12:g.15521748T>C rs201450724 0.00007
NM_005677.4(COLQ):c.107-8939_107-8938del rs772340759 0.00004
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) rs763096476 0.00004
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) rs780362486 0.00003
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_005677.4(COLQ):c.393+3A>G rs1248479113 0.00002
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met) rs1015425548 0.00001
NM_005677.4(COLQ):c.1350C>T (p.Pro450=) rs747648795 0.00001
NM_005677.4(COLQ):c.214A>G (p.Ser72Gly) rs771877645 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.429T>C (p.Pro143=) rs775589975 0.00001
NM_005677.4(COLQ):c.637-5T>C rs771329801 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu) rs370201862 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
GRCh37/hg19 3p25.1(chr3:15538239-15601351)x1
NC_000003.12:g.15521761_15521762del rs201205850
NC_000003.12:g.15521761_15521764del rs368727928
NC_000003.12:g.15521761_15521768del rs199798913
NC_000003.12:g.15521777C>T rs73033053
NC_000003.12:g.15521783CT[1]
NC_000003.12:g.15521884= rs4684250
NM_005677.3(COLQ):c.-120_-119CA[9] rs746566925
NM_005677.3(COLQ):c.-122_-121delCG rs530131087
NM_005677.3(COLQ):c.-124_-121delCACG rs886058111
NM_005677.4(COLQ):c.*1395C>T rs3274
NM_005677.4(COLQ):c.1010T>C (p.Ile337Thr) rs1057521153
NM_005677.4(COLQ):c.107-9294_107-9293insTGAC rs56412513
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1176T>C (p.Asp392=) rs794727145
NM_005677.4(COLQ):c.1195+81G>T rs73818509
NM_005677.4(COLQ):c.1279T>C (p.Cys427Arg) rs1064795839
NM_005677.4(COLQ):c.128A>G (p.Lys43Arg) rs1357463626
NM_005677.4(COLQ):c.1298+190G>A
NM_005677.4(COLQ):c.1338C>A (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.220-187G>A rs73816218
NM_005677.4(COLQ):c.283C>T (p.Gln95Ter) rs1302783957
NM_005677.4(COLQ):c.291G>C (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.367-9C>T rs1575477020
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
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
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe) rs1310878358
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005677.4(COLQ):c.574G>A (p.Gly192Ser)
NM_005677.4(COLQ):c.718-217_718-216insAGGAC rs10676390
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
NM_005677.4(COLQ):c.937del (p.Ser313fs) rs1553634790
NM_005677.4(COLQ):c.949C>G (p.Pro317Ala) rs1064797292
NM_005677.4(COLQ):c.955-256C>A rs2174266
NM_005677.4(COLQ):c.955-256_955-249del rs141471889
NM_005677.4(COLQ):c.955-2A>C

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