ClinVar Miner

List of variants in gene COL6A1 reported by Revvity Omics, Revvity

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858 0.00070
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910 0.00032
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile) rs375452881 0.00023
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp) rs766184155 0.00021
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00017
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00017
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met) rs200959957 0.00014
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639 0.00013
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp) rs146622557 0.00013
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608 0.00012
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00012
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr) rs149392243 0.00011
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg) rs756141940 0.00011
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00009
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00009
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val) rs765631918 0.00008
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln) rs377586358 0.00008
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283 0.00007
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg) rs770703803 0.00007
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001848.3(COL6A1):c.739-5C>G rs369946755 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln) rs764762208 0.00006
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His) rs758242849 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001848.3(COL6A1):c.2919C>T (p.Val973=) rs764490258 0.00006
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys) rs749628937 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg) rs768435283 0.00005
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00005
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00005
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met) rs146202983 0.00005
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00005
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln) rs757791812 0.00005
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met) rs376807461 0.00004
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr) rs760815168 0.00004
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu) rs759442615 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.329G>A (p.Arg110His) rs773139115 0.00004
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr) rs145473829 0.00004
NM_001848.3(COL6A1):c.1442A>T (p.Glu481Val) rs556176545 0.00003
NM_001848.3(COL6A1):c.1583C>T (p.Pro528Leu) rs181256566 0.00003
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn) rs140517685 0.00003
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_001848.3(COL6A1):c.2468C>T (p.Thr823Met) rs749442445 0.00003
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962 0.00003
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00003
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys) rs886043011 0.00003
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407 0.00003
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr) rs771844518 0.00003
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val) rs373070436 0.00003
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys) rs568039462 0.00003
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser) rs763470078 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.2227G>A (p.Val743Met) rs760236532 0.00002
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met) rs774657642 0.00002
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr) rs748327110 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met) rs751999785 0.00002
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His) rs369764291 0.00002
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn) rs1309822720 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 0.00002
NM_001848.3(COL6A1):c.403A>C (p.Lys135Gln) rs774261368 0.00002
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg) rs754667407 0.00002
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met) rs372199631 0.00002
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp) rs950115468 0.00002
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn) rs767205402 0.00002
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu) rs757230924 0.00002
NM_001848.3(COL6A1):c.-1C>T rs377142360 0.00001
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val) rs765826390 0.00001
NM_001848.3(COL6A1):c.1273-3C>T rs766529458 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp) rs753297152 0.00001
NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu) rs759834554 0.00001
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg) rs764235653 0.00001
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys) rs1428472482 0.00001
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu) rs779748438 0.00001
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro) rs1397088680 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1720C>T (p.Arg574Trp) rs761678568 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys) rs367650141 0.00001
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser) rs760265069 0.00001
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu) rs886042572 0.00001
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala) rs765815035 0.00001
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr) rs143925936 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met) rs573185206 0.00001
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val) rs760236780 0.00001
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile) rs375831680 0.00001
NM_001848.3(COL6A1):c.2810A>G (p.Lys937Arg) rs1313797179 0.00001
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln) rs794727580 0.00001
NM_001848.3(COL6A1):c.2894C>T (p.Ala965Val) rs1339806588 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356 0.00001
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val) rs767414809 0.00001
NM_001848.3(COL6A1):c.520G>T (p.Asp174Tyr) rs1276672073 0.00001
NM_001848.3(COL6A1):c.543C>G (p.His181Gln) rs1378555453 0.00001
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val) rs1458430503 0.00001
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met) rs1343618467 0.00001
NM_001848.3(COL6A1):c.77C>T (p.Pro26Leu) rs150165253 0.00001
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159 0.00001
NM_001848.3(COL6A1):c.93C>A (p.Phe31Leu) rs753371577 0.00001
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+1G>A rs886043700
NM_001848.3(COL6A1):c.1002+1G>C rs886043700
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.3(COL6A1):c.1042_1043dup (p.Pro349fs) rs2123473129
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1G>C rs398123631
NM_001848.3(COL6A1):c.1056+4A>G rs886043433
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp) rs2526326045
NM_001848.3(COL6A1):c.108_115del (p.Asp37fs) rs2123460152
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1255G>T (p.Gly419Cys) rs745485695
NM_001848.3(COL6A1):c.1283G>C (p.Gly428Ala) rs2123475472
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His) rs778234022
NM_001848.3(COL6A1):c.1398+3A>G rs2526332181
NM_001848.3(COL6A1):c.1402G>C (p.Glu468Gln) rs1467389704
NM_001848.3(COL6A1):c.1427G>C (p.Gly476Ala) rs2526336689
NM_001848.3(COL6A1):c.1461G>C (p.Glu487Asp) rs1474176856
NM_001848.3(COL6A1):c.1525-3del rs2526338394
NM_001848.3(COL6A1):c.1611+1G>A rs886042748
NM_001848.3(COL6A1):c.1612-1G>A rs112667801
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.2018A>G (p.His673Arg) rs2526349461
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu) rs138312247
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His) rs1334833248
NM_001848.3(COL6A1):c.215A>C (p.Asn72Thr) rs2077715289
NM_001848.3(COL6A1):c.2195C>T (p.Ser732Leu) rs1556432119
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.227+1G>A rs2123460317
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser) rs886042688
NM_001848.3(COL6A1):c.2354G>A (p.Gly785Asp) rs2526351251
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr) rs1427066240
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val) rs1428047738
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.3(COL6A1):c.2645G>T (p.Gly882Val) rs1274335165
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.3(COL6A1):c.2808G>T (p.Lys936Asn) rs754364018
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val) rs147882179
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val) rs763228065
NM_001848.3(COL6A1):c.2904G>C (p.Glu968Asp) rs776819960
NM_001848.3(COL6A1):c.2915T>C (p.Val972Ala) rs1131691418
NM_001848.3(COL6A1):c.2924del (p.Gly975fs) rs2526355394
NM_001848.3(COL6A1):c.2927G>T (p.Arg976Leu) rs753485651
NM_001848.3(COL6A1):c.3044G>A (p.Gly1015Asp) rs2526355760
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.3(COL6A1):c.379A>G (p.Thr127Ala) rs886043850
NM_001848.3(COL6A1):c.388_399del (p.Asp130_Ile133del) rs2526310862
NM_001848.3(COL6A1):c.475G>T (p.Gly159Trp) rs1471465037
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.617A>G (p.Asp206Gly) rs2526316028
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.650A>C (p.Asp217Ala) rs1177728735
NM_001848.3(COL6A1):c.663C>G (p.Ser221Arg) rs2526316160
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg) rs762299598
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.903+1G>T rs1569518119
NM_001848.3(COL6A1):c.904-1G>T rs2123471124
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.957+2T>G rs794727060
NM_001848.3(COL6A1):c.958-3_958-2del rs746026745
NM_001848.3(COL6A1):c.968G>A (p.Gly323Asp) rs2526323385
NM_001848.3(COL6A1):c.98-3C>G rs1353609979

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