ClinVar Miner

List of variants reported as benign for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
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HGVS dbSNP
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) rs1980982
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) rs7279254
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) rs117340427
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) rs35134265
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=) rs182425338
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2049C>T (p.Asn683=) rs143695871
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) rs1053312
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) rs371763977
NM_001848.2(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=) rs141620374
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.381C>T (p.Thr127=) rs75180385
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) rs61751027
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.777G>A (p.Pro259=) rs61735854
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
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.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) rs189341312
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.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2484G>A (p.Thr828=) rs147199350
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
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.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
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.2886C>T (p.His962=) rs115970356
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) rs190664941
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
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.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) rs115155458
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) rs112040282
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3456C>T (p.Ser1152=) rs112815265
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) rs145048734
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) rs151234107
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6105G>A (p.Lys2035=) rs35556524
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) rs2646254
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=) rs3790993
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) rs2291795
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.7702C>T (p.Leu2568=) rs201479636
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) rs10201909
NM_004369.3(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=) rs572531941
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205
NM_004370.6(COL12A1):c.4001-10G>A rs73749974
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072
NM_004370.6(COL12A1):c.8179-10A>G rs142509363
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916
NM_057166.5(COL6A3):c.6644-7del rs111494366
NM_058174.3(COL6A2):c.1817-4_1817-3dup rs149954350

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