ClinVar Miner

List of variants in gene COL6A1 reported as benign for Bethlem myopathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87078
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
NM_001848.3(COL6A1):c.1612-10G>A rs141892165 0.00714
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001848.3(COL6A1):c.1182+20C>T rs7275706 0.00705
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_001848.3(COL6A1):c.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=) rs182425338 0.00140
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=) rs141620374 0.00110
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00103
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00078
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.1776+13C>T rs201734661 0.00025
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala) rs140735590 0.00019
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00018
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp) rs146622557 0.00014
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.2435-18G>A rs550691133 0.00011
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=) rs370632963 0.00010
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00009
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln) rs377586358 0.00009
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.894G>A (p.Gln298=) rs371989252 0.00009
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln) rs764762208 0.00007
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp) rs755375448 0.00006
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys) rs189623561 0.00006
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His) rs758242849 0.00006
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met) rs373383488 0.00006
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His) rs537763400 0.00006
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val) rs571641824 0.00006
NM_001848.3(COL6A1):c.789C>T (p.Gly263=) rs148364156 0.00006
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser) rs756467809 0.00005
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=) rs773470822 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.1555G>A (p.Glu519Lys) rs754384963 0.00004
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys) rs552634753 0.00004
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu) rs759442615 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904 0.00004
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00004
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228 0.00004
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407 0.00004
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys) rs780139552 0.00004
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys) rs376764211 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln) rs757791812 0.00004
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632 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.1979C>T (p.Ala660Val) rs748997622 0.00003
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser) rs142881632 0.00003
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser) rs566453317 0.00003
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys) rs886043011 0.00003
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr) rs771844518 0.00003
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His) rs746877994 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu) rs763049658 0.00003
NM_001848.3(COL6A1):c.378C>T (p.Gly126=) rs776619127 0.00003
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu) rs775946362 0.00003
NM_001848.3(COL6A1):c.706G>A (p.Val236Met) rs145269003 0.00003
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile) rs564072783 0.00002
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln) rs774361880 0.00002
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp) rs779362329 0.00002
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp) rs767361934 0.00002
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr) rs143925936 0.00002
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr) rs766416007 0.00002
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666 0.00002
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys) rs376061269 0.00002
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val) rs758399765 0.00002
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile) rs781394145 0.00002
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His) rs369764291 0.00002
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser) rs368580280 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 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.1190C>T (p.Pro397Leu) rs746386684 0.00001
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val) rs765826390 0.00001
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn) rs778234022 0.00001
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg) rs764235653 0.00001
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys) rs1467389704 0.00001
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln) rs776914710 0.00001
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn) rs140517685 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser) rs760265069 0.00001
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631 0.00001
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile) rs749790625 0.00001
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met) rs765641686 0.00001
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met) rs774657642 0.00001
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser) rs370546340 0.00001
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala) rs762499313 0.00001
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn) rs746305862 0.00001
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met) rs573185206 0.00001
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys) rs779199061 0.00001
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=) rs775569169 0.00001
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu) rs768598525 0.00001
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln) rs794727580 0.00001
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val) rs767414809 0.00001
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val) rs759880017 0.00001
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys) rs749929221 0.00001
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met) rs1343618467 0.00001
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) rs192125814 0.00001
NM_001848.3(COL6A1):c.621C>A (p.His207Gln) rs866987981 0.00001
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val) rs1177728735 0.00001
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys) rs560001473 0.00001
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr) rs569642530 0.00001
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val) rs770597799 0.00001
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu) rs767905829 0.00001
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp) rs752259110 0.00001
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly) rs1482699064 0.00001
NM_001848.3(COL6A1):c.920G>A (p.Arg307His) rs145838277 0.00001
NM_001848.3(COL6A1):c.1002+21_1002+40dup
NM_001848.3(COL6A1):c.1003-15del rs769487412
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1120-13del rs766658998
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser) rs756017426
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
NM_001848.3(COL6A1):c.1740+17G>A rs200299050
NM_001848.3(COL6A1):c.1740+18G>T rs376726434
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=) rs375448277
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met) rs138312247
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC rs1569519143
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln) rs138351067
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro) rs138351067
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn) rs757422397
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser) rs150378645
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser) rs138652066
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His) rs376999117
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu) rs754591267
NM_001848.3(COL6A1):c.316A>G (p.Met106Val) rs1365404018
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
NM_001848.3(COL6A1):c.588+18_588+19dup rs111710378
NM_001848.3(COL6A1):c.588+19del rs111710378
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
NM_001848.3(COL6A1):c.738+24del
NM_001848.3(COL6A1):c.739-11del rs573196191
NM_001848.3(COL6A1):c.759+15del
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro) rs145473829
NM_001848.3(COL6A1):c.903+13C>A rs199632006
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)

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