ClinVar Miner

List of variants in gene COL6A2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP
NC_000021.9:g.46132855G>A
NM_001849.3(COL6A2):c.*105C>T rs538537601
NM_001849.3(COL6A2):c.*106G>A rs185393384
NM_001849.3(COL6A2):c.*121C>A rs886057170
NM_001849.3(COL6A2):c.*139G>A rs774514501
NM_001849.3(COL6A2):c.*147C>T rs560095085
NM_001849.3(COL6A2):c.*202C>T rs886057171
NM_001849.3(COL6A2):c.*307G>A rs532914531
NM_001849.3(COL6A2):c.*31C>T rs886057169
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.1013G>A (p.Arg338His) rs760872485
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=) rs746727003
NM_001849.3(COL6A2):c.1105C>T (p.Gln369Ter) rs1568930865
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.116-11G>A rs886057166
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=) rs144136807
NM_001849.3(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1333-8T>C rs73159701
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) rs750842859
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.1465C>T (p.Arg489Trp) rs727502829
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
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.1599C>T (p.Arg533=) rs373635709
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1672-12G>A rs113857622
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+14C>T rs886057167
NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1770+1G>A rs752803039
NM_001849.3(COL6A2):c.1770+4G>A rs9981981
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=) rs139571947
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) rs746339542
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.1970-10C>T rs373369963
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) rs146323303
NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) rs1042917
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2094G>A (p.Ala698=) rs13052956
NM_001849.3(COL6A2):c.2097C>T (p.Gly699=) rs13046639
NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
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.2184G>A (p.Val728=) rs2839114
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2205C>T (p.His735=) rs755147431
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2250C>T (p.Arg750=) rs200096552
NM_001849.3(COL6A2):c.2264C>T (p.Thr755Met) rs369954815
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.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.3(COL6A2):c.2423-11C>T rs199952790
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2436G>A (p.Val812=) rs372745282
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met) rs758758266
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met) rs755782924
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443
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.2575G>A (p.Val859Met) rs370446082
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
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.2611G>A (p.Asp871Asn) rs387906610
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.2712G>A (p.Ala904=) rs139116075
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=) rs747734639
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met) rs145527336
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) rs374384263
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=) rs138074469
NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) rs375430758
NM_001849.3(COL6A2):c.2886C>T (p.His962=) rs115970356
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met) rs145959270
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) rs190664941
NM_001849.3(COL6A2):c.2978G>A (p.Arg993His) rs544436881
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=) rs752243349
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) rs747184649
NM_001849.3(COL6A2):c.411G>A (p.Ala137=) rs528885146
NM_001849.3(COL6A2):c.446G>A (p.Arg149His) rs143891262
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.537G>A (p.Arg179=) rs762450920
NM_001849.3(COL6A2):c.542G>A (p.Arg181His) rs371640468
NM_001849.3(COL6A2):c.568G>A (p.Val190Met) rs150877061
NM_001849.3(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) rs113017484
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) rs530625182
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+9C>T rs78822624
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.791G>A (p.Arg264His) rs148029276
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.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.901-10C>T rs754039292
NM_001849.3(COL6A2):c.903C>T (p.Gly301=) rs541325013
NM_001849.3(COL6A2):c.933A>T (p.Glu311Asp) rs370624136
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166
NM_001849.4(COL6A2):c.*103G>A
NM_001849.4(COL6A2):c.*105C>G
NM_001849.4(COL6A2):c.*148G>A
NM_001849.4(COL6A2):c.*203G>A
NM_001849.4(COL6A2):c.*219C>T
NM_001849.4(COL6A2):c.*296A>G
NM_001849.4(COL6A2):c.-76T>C
NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)
NM_001849.4(COL6A2):c.1117-14G>A
NM_001849.4(COL6A2):c.1180-10C>T rs777782503
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)
NM_001849.4(COL6A2):c.1396-11C>T
NM_001849.4(COL6A2):c.1522-7C>T
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)
NM_001849.4(COL6A2):c.1735-14C>T
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
NM_001849.4(COL6A2):c.1771-13G>A
NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala)
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.1829G>A (p.Arg610His)
NM_001849.4(COL6A2):c.1886C>A (p.Thr629Asn)
NM_001849.4(COL6A2):c.1970-3C>A rs201879417
NM_001849.4(COL6A2):c.1970-9G>A rs747900252
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.4(COL6A2):c.2424C>T (p.Asp808=)
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)
NM_001849.4(COL6A2):c.54C>G (p.Ile18Met)
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)
NM_001849.4(COL6A2):c.714+13C>T
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)

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