ClinVar Miner

List of variants in gene COL6A3 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004369.4(COL6A3):c.7029+256G>A rs72986103 0.02433
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_004369.4(COL6A3):c.7765+206G>A rs55635726 0.01765
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_004369.4(COL6A3):c.6690+39T>C rs58342729 0.01495
NM_004369.4(COL6A3):c.6538-84T>G rs73998888 0.01470
NM_004369.4(COL6A3):c.3680-230T>C rs76568198 0.01443
NM_004369.4(COL6A3):c.91+194C>A rs73093801 0.01373
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_004369.4(COL6A3):c.8568-297del rs375258747 0.01123
NM_004369.4(COL6A3):c.8568-295_8568-294insA rs201078854 0.01121
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_004369.4(COL6A3):c.6816+137G>A rs150628086 0.01083
NM_004369.4(COL6A3):c.5918-293G>A rs10206312 0.01072
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_004369.4(COL6A3):c.92-71G>A rs111726447 0.01060
NM_004369.4(COL6A3):c.1897+163C>G rs78219354 0.01059
NM_004369.4(COL6A3):c.709+96T>C rs3748778 0.01056
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004369.4(COL6A3):c.7668+297G>A rs138722779 0.00992
NM_004369.4(COL6A3):c.9230-173T>C rs111918424 0.00905
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_004369.4(COL6A3):c.3070+272T>C rs74935066 0.00895
NM_004369.4(COL6A3):c.6880-212G>A rs73999308 0.00885
NM_004369.4(COL6A3):c.6063+160C>T rs73998891 0.00860
NM_004369.4(COL6A3):c.6471+263T>C rs75838500 0.00851
NM_004369.4(COL6A3):c.4286-261C>A rs189764195 0.00834
NM_004369.4(COL6A3):c.4286-262A>G rs180926553 0.00833
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_004369.4(COL6A3):c.710-285C>G rs11891780 0.00766
NM_004369.4(COL6A3):c.1312+218A>G rs77372376 0.00758
NM_004369.4(COL6A3):c.5917+109G>A rs75087401 0.00723
NM_004369.4(COL6A3):c.1313-71T>C rs13415963 0.00722
NM_004369.4(COL6A3):c.1898-109A>C rs10209074 0.00720
NM_004369.4(COL6A3):c.5839-103G>A rs112012504 0.00718
NM_004369.4(COL6A3):c.1312+294G>A rs78734078 0.00713
NM_004369.4(COL6A3):c.5500+71C>T rs74648902 0.00702
NM_004369.4(COL6A3):c.6472-257A>G rs79439170 0.00683
NM_004369.4(COL6A3):c.6064-211A>G rs73093733 0.00680
NM_004369.4(COL6A3):c.5500+231T>G rs75707353 0.00661
NM_004369.4(COL6A3):c.1898-56G>A rs56882153 0.00633
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_004369.4(COL6A3):c.6592-319G>T rs79986217 0.00611
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004369.4(COL6A3):c.5917+92C>T rs117702320 0.00574
NM_004369.4(COL6A3):c.5500+22T>G rs73093738 0.00551
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004369.4(COL6A3):c.709+200G>A rs72986178 0.00511
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_004369.4(COL6A3):c.8567+337C>A rs145216890 0.00501
NM_004369.4(COL6A3):c.-30-83C>T rs116723844 0.00487
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.5917+27A>G rs78387780 0.00458
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.7766-124C>T rs113676306 0.00421
NM_004369.4(COL6A3):c.6880-59C>T rs113165342 0.00409
NM_004369.4(COL6A3):c.6880-58G>T rs112554120 0.00406
NM_004369.4(COL6A3):c.8567+281C>G rs112384249 0.00406
NM_004369.4(COL6A3):c.8965+62G>A rs111756435 0.00406
NM_004369.4(COL6A3):c.1897+159G>T rs143755768 0.00399
NM_004369.4(COL6A3):c.1313-42G>A rs112545923 0.00398
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_004369.4(COL6A3):c.8465-43A>G rs111500723 0.00389
NM_004369.4(COL6A3):c.6537+93C>T rs138383759 0.00384
NM_004369.4(COL6A3):c.9229+110A>G rs142705368 0.00376
NM_004369.4(COL6A3):c.4901-321T>C rs149445612 0.00374
NM_004369.4(COL6A3):c.6753+102C>G rs140765285 0.00363
NM_004369.4(COL6A3):c.8966-199A>G rs78399149 0.00361
NM_004369.4(COL6A3):c.7092+279T>C rs140259811 0.00360
NM_004369.4(COL6A3):c.6282+143G>A rs150577376 0.00359
NM_004369.4(COL6A3):c.6690+177T>G rs114874223 0.00354
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_004369.4(COL6A3):c.9230-202G>A rs150422369 0.00319
NM_004369.4(COL6A3):c.7162+48G>A rs112563876 0.00316
NM_004369.4(COL6A3):c.6754-37G>C rs113304682 0.00312
NM_004369.4(COL6A3):c.3071-206A>T rs151278133 0.00305
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998 0.00214
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=) rs113781746 0.00178
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) rs34978064 0.00147
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324 0.00077
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) rs115401779 0.00076
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977 0.00064
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004369.4(COL6A3):c.6064-45G>T rs118000431 0.00055
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004369.4(COL6A3):c.4901-24T>A rs78239843 0.00043
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) rs148713779 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) rs528369978 0.00035
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) rs151234107 0.00033
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00030
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00028
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) rs114791158 0.00019
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) rs200111289 0.00017
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669 0.00016
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) rs144592806 0.00012
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.843G>T (p.Val281=) rs376201065 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) rs202086524 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=) rs145048734 0.00009
NM_004369.4(COL6A3):c.6211-13T>C rs751001881 0.00009
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=) rs369620378 0.00008
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=) rs368711215 0.00008
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) rs141280228 0.00007
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) rs147215386 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.6948T>G (p.Pro2316=) rs1463694261 0.00006
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) rs115591088 0.00006
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) rs751580746 0.00006
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=) rs368285658 0.00004
NM_004369.4(COL6A3):c.354T>G (p.Thr118=) rs751592191 0.00004
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=) rs747802067 0.00004
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=) rs199759398 0.00004
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=) rs375668409 0.00004
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) rs570963533 0.00004
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) rs748814297 0.00004
NM_004369.4(COL6A3):c.1776G>A (p.Leu592=) rs768605165 0.00003
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=) rs528204718 0.00003
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=) rs751433682 0.00003
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) rs781449958 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) rs199869924 0.00003
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) rs376912950 0.00002
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=) rs776665419 0.00002
NM_004369.4(COL6A3):c.2907G>A (p.Val969=) rs772894785 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.5670G>A (p.Val1890=) rs781427401 0.00002
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=) rs560225578 0.00002
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=) rs113423040 0.00002
NM_004369.4(COL6A3):c.8464+12G>A rs199707923 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) rs762463347 0.00001
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=) rs138036318 0.00001
NM_004369.4(COL6A3):c.1947C>T (p.Asn649=) rs778681864 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.5343C>T (p.Ile1781=) rs767676914 0.00001
NM_004369.4(COL6A3):c.6009C>T (p.Asp2003=) rs1396635150 0.00001
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=) rs777351827 0.00001
NM_004369.4(COL6A3):c.7030-14T>C rs759502121 0.00001
NM_004369.4(COL6A3):c.8568-9T>C rs1369507012 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=) rs768887961 0.00001
NM_004369.4(COL6A3):c.-30-210TATC[14] rs60589035
NM_004369.4(COL6A3):c.1431C>T (p.Ile477=)
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=) rs199969722
NM_004369.4(COL6A3):c.216A>G (p.Gly72=) rs1574756685
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.2937C>T (p.Asp979=) rs763515820
NM_004369.4(COL6A3):c.3070+9G>C rs1016749268
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=) rs200562443
NM_004369.4(COL6A3):c.3680-225A>T rs80185031
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.4(COL6A3):c.4285+41C>T rs2077690067
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=) rs1574695218
NM_004369.4(COL6A3):c.4901-113_4901-112del rs112061651
NM_004369.4(COL6A3):c.4901-255G>A rs115360817
NM_004369.4(COL6A3):c.5250C>T (p.Ile1750=) rs1315026472
NM_004369.4(COL6A3):c.5343C>A (p.Ile1781=)
NM_004369.4(COL6A3):c.5430G>A (p.Glu1810=)
NM_004369.4(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.6498G>A (p.Glu2166=) rs1574972574
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
NM_004369.4(COL6A3):c.6931-51G>C rs111498339
NM_004369.4(COL6A3):c.6978T>G (p.Gly2326=) rs755565292
NM_004369.4(COL6A3):c.7093-201C>T rs111940831
NM_004369.4(COL6A3):c.7163-44G>A rs113448987
NM_004369.4(COL6A3):c.7284T>C (p.Ile2428=) rs1574948591
NM_004369.4(COL6A3):c.7332G>A (p.Arg2444=) rs761741342
NM_004369.4(COL6A3):c.7338T>C (p.Ala2446=)
NM_004369.4(COL6A3):c.7434G>T (p.Val2478=) rs776779589
NM_004369.4(COL6A3):c.7668+95C>A rs11885964
NM_004369.4(COL6A3):c.7668+95C>G rs11885964
NM_004369.4(COL6A3):c.7746C>A (p.Leu2582=) rs751294512
NM_004369.4(COL6A3):c.7881T>G (p.Ala2627=)
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.4(COL6A3):c.8465-18T>C rs1318549888
NM_004369.4(COL6A3):c.8465-7dup rs111494366
NM_004369.4(COL6A3):c.8604C>T (p.Ser2868=)
NM_004369.4(COL6A3):c.8652C>T (p.Thr2884=)
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2]) rs746284792
NM_004369.4(COL6A3):c.8673C>A (p.Thr2891=)
NM_004369.4(COL6A3):c.8966-321G>A rs55820303
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
NM_004369.4(COL6A3):c.9201A>G (p.Arg3067=) rs1336555076

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