ClinVar Miner

List of variants in gene COL6A3 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.7029+256G>A rs72986103 0.02433
NM_004369.4(COL6A3):c.7765+206G>A rs55635726 0.01765
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.8568-297del rs375258747 0.01123
NM_004369.4(COL6A3):c.8568-295_8568-294insA rs201078854 0.01121
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.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.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.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.6592-319G>T rs79986217 0.00611
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.709+200G>A rs72986178 0.00511
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.5917+27A>G rs78387780 0.00458
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
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.709+11C>T rs111660070 0.00395
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.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.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
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.4090G>A (p.Val1364Met) rs35524572 0.00122
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.91+11G>C rs372744024 0.00089
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.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.292A>T (p.Thr98Ser) rs76646066 0.00057
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.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) rs144249704 0.00044
NM_004369.4(COL6A3):c.4901-24T>A rs78239843 0.00043
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 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.9017A>G (p.Lys3006Arg) rs2270668 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.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.7029+10C>T rs376525317 0.00027
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.7092+20T>C rs115681406 0.00026
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00025
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
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.8097G>A (p.Val2699=) rs115757876 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.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
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.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.6211-13T>C rs751001881 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=) rs369620378 0.00008
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
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.7590G>A (p.Val2530=) rs115591088 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) rs751580746 0.00006
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=) rs149697986 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=) rs763648429 0.00004
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=) rs776983763 0.00004
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=) rs747802067 0.00004
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=) rs140699766 0.00004
NM_004369.4(COL6A3):c.6967-15C>T rs112451272 0.00004
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=) rs113754336 0.00004
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=) rs754977455 0.00004
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 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.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.624C>T (p.Asp208=) rs757316338 0.00003
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) rs199869924 0.00003
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=) rs776665419 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=) rs771602562 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.1898-17T>C rs1057523034 0.00001
NM_004369.4(COL6A3):c.3903G>A (p.Arg1301=) rs1407770118 0.00001
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=) rs747160916 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.7030-14T>C rs759502121 0.00001
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=) rs145136426 0.00001
NM_004369.4(COL6A3):c.8568-9T>C rs1369507012 0.00001
NM_004369.4(COL6A3):c.9329-4A>T rs199800564 0.00001
NM_004369.4(COL6A3):c.-30-210TATC[14] rs60589035
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.1356C>G (p.Gly452=) rs761005162
NM_004369.4(COL6A3):c.1471_1475delinsCACAG (p.Asp491_Thr492delinsHisSer) rs1064793587
NM_004369.4(COL6A3):c.3680-225A>T rs80185031
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.4901-113_4901-112del rs112061651
NM_004369.4(COL6A3):c.4901-255G>A rs115360817
NM_004369.4(COL6A3):c.5061C>T (p.Pro1687=) rs1057522807
NM_004369.4(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.5839-9T>C rs745307761
NM_004369.4(COL6A3):c.6409-15G>A rs1553553017
NM_004369.4(COL6A3):c.6931-51G>C rs111498339
NM_004369.4(COL6A3):c.7093-201C>T rs111940831
NM_004369.4(COL6A3):c.710-20dup rs759721812
NM_004369.4(COL6A3):c.7162+11G>A rs540897134
NM_004369.4(COL6A3):c.7163-44G>A rs113448987
NM_004369.4(COL6A3):c.7668+95C>A rs11885964
NM_004369.4(COL6A3):c.7668+95C>G rs11885964
NM_004369.4(COL6A3):c.8465-18T>C rs1318549888
NM_004369.4(COL6A3):c.8465-7dup rs111494366
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2]) rs746284792
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=) rs147324162
NM_004369.4(COL6A3):c.8966-321G>A rs55820303

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