ClinVar Miner

List of variants in gene COL6A2 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP
NC_000021.9:g.46120116del
NC_000021.9:g.46120124_46120125del
NC_000021.9:g.46125328del
NM_001849.3(COL6A2):c.-27-108G>C
NM_001849.3(COL6A2):c.-27-149C>T
NM_001849.3(COL6A2):c.-27-89G>A
NM_001849.3(COL6A2):c.-43G>T rs1057522012
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1053+193G>A
NM_001849.3(COL6A2):c.1054-100A>C
NM_001849.3(COL6A2):c.1059C>T (p.Pro353=) rs1381119779
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.1116+123G>A
NM_001849.3(COL6A2):c.1116+200G>A
NM_001849.3(COL6A2):c.1116+221G>A
NM_001849.3(COL6A2):c.1116+32G>A rs7279347
NM_001849.3(COL6A2):c.1117-218A>T
NM_001849.3(COL6A2):c.1117-279G>A
NM_001849.3(COL6A2):c.1117-56C>G
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1179+101G>T
NM_001849.3(COL6A2):c.1194C>T (p.Asn398=)
NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110
NM_001849.3(COL6A2):c.1198G>A (p.Gly400Arg) rs1064796261
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.1270-169T>C
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1332+120A>C
NM_001849.3(COL6A2):c.1332+26A>G rs3737362
NM_001849.3(COL6A2):c.1332+272G>A
NM_001849.3(COL6A2):c.1332+286C>T
NM_001849.3(COL6A2):c.1332+290T>G
NM_001849.3(COL6A2):c.1332+293T>C
NM_001849.3(COL6A2):c.1332+299dup
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1333-169C>T
NM_001849.3(COL6A2):c.1333-198A>C
NM_001849.3(COL6A2):c.1333-229C>T
NM_001849.3(COL6A2):c.1333-243C>T
NM_001849.3(COL6A2):c.1333-80C>T
NM_001849.3(COL6A2):c.1333-8T>C rs73159701
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1395+234G>A
NM_001849.3(COL6A2):c.1395+82G>A
NM_001849.3(COL6A2):c.1396-133G>C
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1459-168A>G
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1476C>T (p.Pro492=) rs772436808
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1521+10C>T
NM_001849.3(COL6A2):c.1521+212A>G
NM_001849.3(COL6A2):c.1521+21A>G rs1077182
NM_001849.3(COL6A2):c.1522-199_1522-198insT
NM_001849.3(COL6A2):c.1522-36T>C rs9976026
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=) rs112197239
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.3(COL6A2):c.1572+148C>T
NM_001849.3(COL6A2):c.1572+1G>A rs1057520717
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1573-32C>T rs17272651
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1609-155T>C
NM_001849.3(COL6A2):c.1609-163G>A
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1620C>T (p.Gly540=) rs774587547
NM_001849.3(COL6A2):c.1651_1659AAAGGAGAG[3] (p.551_553KGE[3]) rs773493556
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1671+17C>T rs372188653
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
NM_001849.3(COL6A2):c.1672-12G>A rs113857622
NM_001849.3(COL6A2):c.1672-177T>C
NM_001849.3(COL6A2):c.1672-24C>G rs3746995
NM_001849.3(COL6A2):c.1672-257T>C
NM_001849.3(COL6A2):c.1672-37G>T rs79205686
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1734+35A>G rs55933135
NM_001849.3(COL6A2):c.1735-30A>G rs73382466
NM_001849.3(COL6A2):c.1735-72G>A
NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) rs146311719
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1770+11C>T rs755518889
NM_001849.3(COL6A2):c.1770+4G>A rs9981981
NM_001849.3(COL6A2):c.1771-159G>A
NM_001849.3(COL6A2):c.1771-25A>G rs2839113
NM_001849.3(COL6A2):c.1817-33C>T rs2276101
NM_001849.3(COL6A2):c.1817-69T>C
NM_001849.3(COL6A2):c.1817-8C>G rs750444649
NM_001849.3(COL6A2):c.186dup (p.Thr63fs) rs886041439
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1970-23G>C rs78764604
NM_001849.3(COL6A2):c.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335
NM_001849.3(COL6A2):c.2038_2039delinsA (p.Arg680fs) rs1064795685
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) rs373514837
NM_001849.3(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.3(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
NM_001849.3(COL6A2):c.2184G>A (p.Val728=) rs2839114
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
NM_001849.3(COL6A2):c.225G>T (p.Pro75=) rs143678454
NM_001849.3(COL6A2):c.22G>A (p.Val8Met) rs192476178
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=) rs181711180
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.3(COL6A2):c.2422+112C>A
NM_001849.3(COL6A2):c.2422+1G>A rs113828929
NM_001849.3(COL6A2):c.2422+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
NM_001849.3(COL6A2):c.2422+93T>C
NM_001849.3(COL6A2):c.2423-11C>T rs199952790
NM_001849.3(COL6A2):c.2423-18C>T rs866625140
NM_001849.3(COL6A2):c.2423-18_2423-17ins30
NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2423-35C>A rs16978878
NM_001849.3(COL6A2):c.2423-83T>C
NM_001849.3(COL6A2):c.244C>T (p.Gln82Ter) rs886041447
NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.3(COL6A2):c.2461+11G>A rs200484565
NM_001849.3(COL6A2):c.2461+15C>T rs1057002808
NM_001849.3(COL6A2):c.2461+2100A>C
NM_001849.3(COL6A2):c.2462-12G>A rs369839157
NM_001849.3(COL6A2):c.2462-204T>C
NM_001849.3(COL6A2):c.2462-2239T>A
NM_001849.3(COL6A2):c.2462-2255C>T
NM_001849.3(COL6A2):c.2462-2299T>C
NM_001849.3(COL6A2):c.2462-2311A>G
NM_001849.3(COL6A2):c.2462-2358G>C
NM_001849.3(COL6A2):c.2462-35C>T rs7279622
NM_001849.3(COL6A2):c.2462-5dupC rs797044699
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
NM_001849.3(COL6A2):c.2515_2516del (p.Asp839fs) rs1064793394
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs863224243
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) rs150219725
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) rs116817879
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2696C>T (p.Thr899Met) rs771341779
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) rs144516266
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2754C>T (p.Gly918=) rs765055618
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
NM_001849.3(COL6A2):c.2843C>T (p.Thr948Met) rs367980010
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=) rs138074469
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) rs375430758
NM_001849.3(COL6A2):c.2884C>G (p.His962Asp) rs373184224
NM_001849.3(COL6A2):c.2886C>T (p.His962=) rs115970356
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.2898G>A (p.Lys966=) rs759502409
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=) rs145460820
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3019C>G (p.Gln1007Glu) rs1555877377
NM_001849.3(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391
NM_001849.3(COL6A2):c.333G>A (p.Pro111=) rs370531466
NM_001849.3(COL6A2):c.335G>A (p.Gly112Asp) rs776732203
NM_001849.3(COL6A2):c.390C>T (p.Arg130=) rs544610322
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.431A>G (p.Gln144Arg) rs1555871542
NM_001849.3(COL6A2):c.459C>T (p.Thr153=) rs764014106
NM_001849.3(COL6A2):c.483C>T (p.Thr161=) rs138312213
NM_001849.3(COL6A2):c.492C>T (p.His164=) rs140929054
NM_001849.3(COL6A2):c.499G>A (p.Gly167Ser) rs115957676
NM_001849.3(COL6A2):c.510C>T (p.Cys170=) rs142328765
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.535C>T (p.Arg179Trp) rs201470058
NM_001849.3(COL6A2):c.567C>T (p.Ala189=) rs563505047
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.663C>T (p.Pro221=) rs59531343
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+45C>T rs2070957
NM_001849.3(COL6A2):c.714+53C>T
NM_001849.3(COL6A2):c.714+62A>G
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.726C>T (p.Ala242=) rs767184248
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.773C>G (p.Ser258Cys) rs770303583
NM_001849.3(COL6A2):c.786C>G (p.Gly262=) rs145500808
NM_001849.3(COL6A2):c.801+209G>A
NM_001849.3(COL6A2):c.802-250T>G
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+19C>T rs373366455
NM_001849.3(COL6A2):c.855+1G>A rs1057517988
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001849.3(COL6A2):c.856-14G>A rs759917394
NM_001849.3(COL6A2):c.901-111C>T
NM_001849.3(COL6A2):c.928-19C>T rs762438
NM_001849.3(COL6A2):c.94G>T (p.Glu32Ter) rs547648292
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166
NM_001849.3(COL6A2):c.999+14C>T rs761013382
NM_001849.3(COL6A2):c.999+71A>T
NM_058174.3(COL6A2):c.1117-35_1118dup rs1555873698
NM_058174.3(COL6A2):c.1770+17dup rs751366581
NM_058174.3(COL6A2):c.1770+1del rs886044215
NM_058174.3(COL6A2):c.1816+18del rs150275851
NM_058174.3(COL6A2):c.1817-3dup rs149954350
NM_058174.3(COL6A2):c.1970-7_1981dup rs754514524

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