ClinVar Miner

List of variants in gene COL6A2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1332+120A>C rs114994097 0.03673
NM_001849.4(COL6A2):c.1117-279G>A rs12483283 0.03298
NM_001849.4(COL6A2):c.801+209G>A rs145937262 0.02462
NM_001849.4(COL6A2):c.1053+193G>A rs141960812 0.02251
NM_001849.4(COL6A2):c.1332+272G>A rs200878857 0.02153
NM_001849.4(COL6A2):c.-27-108G>C rs77745490 0.01707
NM_001849.4(COL6A2):c.1269+32C>T rs76825716 0.01637
NM_001849.4(COL6A2):c.999+71A>T rs147649367 0.01604
NM_001849.4(COL6A2):c.1117-203G>A rs73908532 0.01497
NM_001849.4(COL6A2):c.1735-70C>T rs73908536 0.01221
NM_001849.4(COL6A2):c.802-30G>A rs73908531 0.01112
NM_001849.4(COL6A2):c.736-289G>A rs112052718 0.01104
NM_001849.4(COL6A2):c.2422+50C>T rs80122874 0.00994
NM_001849.4(COL6A2):c.1396-103C>T rs114418999 0.00921
NM_001849.4(COL6A2):c.1053+92G>A rs73382444 0.00907
NM_001849.4(COL6A2):c.2462-117C>T rs75802540 0.00804
NM_001849.4(COL6A2):c.1116+212C>T rs533913213 0.00781
NM_001849.4(COL6A2):c.1459-177C>T rs7281832 0.00752
NM_001849.4(COL6A2):c.735+194C>T rs150456196 0.00607
NM_001849.4(COL6A2):c.1116+123G>A rs115156393 0.00599
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_001849.4(COL6A2):c.1270-190G>A rs147613619 0.00520
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00515
NM_001849.4(COL6A2):c.2423-42G>A rs115841845 0.00462
NM_001849.4(COL6A2):c.1116+39C>T rs180796593 0.00302
NM_001849.4(COL6A2):c.1332+149A>C rs182808615 0.00301
NM_001849.4(COL6A2):c.1000-165C>T rs185275622 0.00291
NM_001849.4(COL6A2):c.714+23G>A rs139181770 0.00271
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00228
NM_001849.4(COL6A2):c.1771-22C>T rs184405489 0.00220
NM_001849.4(COL6A2):c.2461+2323C>T rs200968911 0.00213
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00186
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00127
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00125
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00113
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00098
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00078
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00078
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00070
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00064
NM_001849.4(COL6A2):c.2423-11C>T rs199952790 0.00060
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_001849.4(COL6A2):c.2462-12G>A rs369839157 0.00053
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00049
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=) rs145460820 0.00048
NM_058174.3(COL6A2):c.2467C>A (p.Pro823Thr) rs78231002 0.00046
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00045
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001849.4(COL6A2):c.2461+2399G>A rs148762354 0.00042
NM_001849.4(COL6A2):c.*19G>A rs376175555 0.00036
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00027
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00026
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00025
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=) rs377476546 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00024
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00017
NM_001849.4(COL6A2):c.1521+35G>A rs185036029 0.00016
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00015
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00013
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00011
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) rs146333253 0.00011
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.855+19C>T rs373366455 0.00009
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.1671+17C>T rs372188653 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=) rs765055618 0.00006
NM_001849.4(COL6A2):c.856-14G>A rs759917394 0.00006
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001849.4(COL6A2):c.1194C>T (p.Asn398=) rs1158137469 0.00004
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.390C>T (p.Arg130=) rs544610322 0.00003
NM_001849.4(COL6A2):c.999+14C>T rs761013382 0.00003
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.333G>A (p.Pro111=) rs370531466 0.00002
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=) rs1381119779 0.00001
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=) rs772436808 0.00001
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=) rs774587547 0.00001
NM_001849.4(COL6A2):c.1770+11C>T rs755518889 0.00001
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.2423-18C>T rs866625140 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2461+15C>T rs1057002808 0.00001
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00001
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=) rs759502409 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001849.4(COL6A2):c.726C>T (p.Ala242=) rs767184248 0.00001
NM_001849.3(COL6A2):c.2423-18_2423-17ins30
NM_001849.4(COL6A2):c.1053+130_1053+143del rs58873991
NM_001849.4(COL6A2):c.1117-9C>T rs1057523383
NM_001849.4(COL6A2):c.1332+285_1332+286insTACCGCTCACCCCCCGGCCCCCACTGAGG rs1342528281
NM_001849.4(COL6A2):c.1459-63G>A rs914794771
NM_001849.4(COL6A2):c.1459-76C>T rs115344658
NM_001849.4(COL6A2):c.1521+10C>T rs753385303
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1770+17dup rs751366581
NM_001849.4(COL6A2):c.1817-8C>G rs750444649
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+7G>T rs773282809
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2461+2035G>A rs6518273
NM_001849.4(COL6A2):c.2461+2370G>A rs9977766
NM_001849.4(COL6A2):c.2461+299G>T rs77102533
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162

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