ClinVar Miner

List of variants in gene COL6A2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP
NM_001849.3(COL6A2):c.*105C>T rs538537601
NM_001849.3(COL6A2):c.*106G>A rs185393384
NM_001849.3(COL6A2):c.*147C>T rs560095085
NM_001849.3(COL6A2):c.*307G>A rs532914531
NM_001849.3(COL6A2):c.*45G>A rs552240091
NM_001849.3(COL6A2):c.*56T>G rs148337125
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.*66C>G rs568256520
NM_001849.3(COL6A2):c.*88G>C rs369124688
NM_001849.3(COL6A2):c.-43G>T rs1057522012
NM_001849.3(COL6A2):c.1000-6C>T rs761428568
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.1116+22C>T rs111592472
NM_001849.3(COL6A2):c.1116+39C>T rs180796593
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+6delA rs578127995
NM_001849.3(COL6A2):c.116-34G>A rs117154313
NM_001849.3(COL6A2):c.116-6C>T rs761805565
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
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.1269+32C>G rs76825716
NM_001849.3(COL6A2):c.1269+32C>T rs76825716
NM_001849.3(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1356C>T (p.Pro452=) rs886044428
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1458+9_1458+14delCAGTGC rs762583937
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.1518C>T (p.Pro506=) rs767192013
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=) rs112197239
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1609-46A>G rs182834722
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.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.1671+9_1671+10invCA
NM_001849.3(COL6A2):c.1672-12G>A rs113857622
NM_001849.3(COL6A2):c.1672-25C>T rs777715877
NM_001849.3(COL6A2):c.1672-45T>A rs539239812
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.1735-30A>G rs73382466
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+17dupG rs751366581
NM_001849.3(COL6A2):c.1816+18delG rs150275851
NM_001849.3(COL6A2):c.1816+9C>T rs1456625954
NM_001849.3(COL6A2):c.1817-3delC rs149954350
NM_001849.3(COL6A2):c.1817-4_1817-3dupCC rs149954350
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.1817-8C>G rs750444649
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=) rs141257132
NM_001849.3(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) rs189341312
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=) rs148178994
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.1969+10G>C rs201259184
NM_001849.3(COL6A2):c.1970-10C>T rs373369963
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.2031C>T (p.Asp677=) rs759646708
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) rs373514837
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.2182G>A (p.Val728Met) rs200585528
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2235G>T (p.Arg745=) rs773668391
NM_001849.3(COL6A2):c.2238G>A (p.Ala746=) rs535581551
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
NM_001849.3(COL6A2):c.2244C>T (p.Cys748=) rs201426778
NM_001849.3(COL6A2):c.2250C>T (p.Arg750=) rs200096552
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.2319C>T (p.Tyr773=) rs377458657
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+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
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_2423-17insCGGCCCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2423-48C>T rs201367713
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=) rs199499499
NM_001849.3(COL6A2):c.2461+11G>A rs200484565
NM_001849.3(COL6A2):c.2461+15C>T rs1057002808
NM_001849.3(COL6A2):c.2461+42G>A rs202043587
NM_001849.3(COL6A2):c.2462-12G>A rs369839157
NM_001849.3(COL6A2):c.2462-5C>T rs760890154
NM_001849.3(COL6A2):c.2462-5dupC rs797044699
NM_001849.3(COL6A2):c.2499C>T (p.Asp833=) rs886038497
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
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.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) rs146420786
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975
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.2634G>A (p.Ala878=) rs143749884
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) rs148249892
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722
NM_001849.3(COL6A2):c.2713C>T (p.Leu905=) rs753611948
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.2766G>A (p.Val922=) rs557446829
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2784C>T (p.Ile928=) rs199501232
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) rs751192681
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.288C>T (p.Tyr96=) rs61735833
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.2944A>G (p.Met982Val) rs190664941
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2978G>A (p.Arg993His) rs544436881
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.2994C>T (p.His998=) rs376362856
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.3(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502
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.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.333G>A (p.Pro111=) rs370531466
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln) rs145352569
NM_001849.3(COL6A2):c.390C>T (p.Arg130=) rs544610322
NM_001849.3(COL6A2):c.402C>T (p.Thr134=) rs201221113
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
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.567C>T (p.Ala189=) rs563505047
NM_001849.3(COL6A2):c.568G>A (p.Val190Met) rs150877061
NM_001849.3(COL6A2):c.612C>T (p.Ile204=) rs773143298
NM_001849.3(COL6A2):c.624G>A (p.Pro208=) rs146333253
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) rs530625182
NM_001849.3(COL6A2):c.672C>T (p.Thr224=) rs759388890
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+10G>A rs777394169
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.726C>T (p.Ala242=) rs767184248
NM_001849.3(COL6A2):c.735+7G>A rs575365107
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.802-45C>T rs200902198
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.828G>A (p.Pro276=) rs140790797
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+19C>T rs373366455
NM_001849.3(COL6A2):c.856-14G>A rs759917394
NM_001849.3(COL6A2):c.903C>T (p.Gly301=) rs541325013
NM_001849.3(COL6A2):c.928-9C>T
NM_001849.3(COL6A2):c.942C>T (p.Ala314=) rs531713008
NM_001849.3(COL6A2):c.978G>A (p.Lys326=) rs1480541163
NM_001849.3(COL6A2):c.981C>T (p.Asn327=) rs768836349
NM_001849.3(COL6A2):c.987C>T (p.Thr329=) rs748215430
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+7G>A rs199783099
NM_058174.2(COL6A2):c.2462-12G>A rs748960649
NM_058174.2(COL6A2):c.2649C>T (p.Phe883=) rs149172490

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