ClinVar Miner

List of variants in gene COL6A2 studied for not specified

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Gene type:
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Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001849.4(COL6A2):c.1734+35A>G rs55933135 0.15106
NM_001849.4(COL6A2):c.1522-36T>C rs9976026 0.12352
NM_001849.4(COL6A2):c.1521+21A>G rs1077182 0.11912
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_001849.4(COL6A2):c.714+45C>T rs2070957 0.09326
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_001849.4(COL6A2):c.2423-35C>A rs16978878 0.07566
NM_001849.4(COL6A2):c.1817-33C>T rs2276101 0.06112
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.1672-37G>T rs79205686 0.05715
NM_001849.4(COL6A2):c.1573-32C>T rs17272651 0.05679
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_001849.4(COL6A2):c.714+29G>A rs11089047 0.04085
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001849.4(COL6A2):c.116-34G>A rs117154313 0.02070
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.1269+32C>T rs76825716 0.01637
NM_001849.4(COL6A2):c.2462-2458C>T rs76978157 0.01258
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001849.4(COL6A2):c.1116+22C>T rs111592472 0.00341
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001849.4(COL6A2):c.1116+39C>T rs180796593 0.00302
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
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.1671+9C>T rs186428044 0.00210
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001849.4(COL6A2):c.2423-48C>T rs201367713 0.00181
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.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00101
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.2423-11C>T rs199952790 0.00096
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00068
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
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.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=) rs145460820 0.00048
NM_001849.4(COL6A2):c.928-9C>T rs200571090 0.00048
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
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.1609-46A>G rs182834722 0.00027
NM_001849.4(COL6A2):c.802-45C>T rs200902198 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230 0.00021
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00011
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.855+19C>T rs373366455 0.00009
NM_001849.4(COL6A2):c.735+9C>T rs377121540 0.00008
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001849.4(COL6A2):c.1671+17C>T rs372188653 0.00006
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=) rs765055618 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.856-14G>A rs759917394 0.00006
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=) rs189341312 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.333G>A (p.Pro111=) rs370531466 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.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.1672-25C>T rs777715877 0.00001
NM_001849.4(COL6A2):c.1770+11C>T rs755518889 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001849.4(COL6A2):c.2423-18C>T rs866625140 0.00001
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met) rs746393019 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2461+2643G>A rs748960649 0.00001
NM_001849.4(COL6A2):c.2461+42G>A rs202043587 0.00001
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=) rs759502409 0.00001
NM_001849.4(COL6A2):c.390C>T (p.Arg130=) rs544610322 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.1117-9C>T rs1057523383
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1269+32C>G rs76825716
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.1672-45T>A rs539239812
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1770+17dup rs751366581
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-4_1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-8C>G rs750444649
NM_001849.4(COL6A2):c.1970-7_1981dup rs754514524
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496
NM_001849.4(COL6A2):c.2351G>T (p.Arg784Leu)
NM_001849.4(COL6A2):c.2362C>A (p.Leu788Met) rs1235087612
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_2423-17insCGGCCCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2461+15C>T rs1057002808
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2499C>T (p.Asp833=) rs886038497
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.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2857G>A (p.Gly953Ser)
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.350C>T (p.Ser117Phe)
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.4(COL6A2):c.955-19C>T

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