ClinVar Miner

List of variants in gene COL6A2 reported as benign for Bethlem myopathy 1A

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=) rs147199350 0.00096
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00068
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_001849.4(COL6A2):c.1969+17C>T rs539735984 0.00048
NM_001849.4(COL6A2):c.928-9C>T rs200571090 0.00048
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=) rs143168888 0.00034
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe) rs375966817 0.00027
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230 0.00021
NM_001849.4(COL6A2):c.2422+16C>T rs372990656 0.00021
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) rs370624136 0.00020
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val) rs376665722 0.00014
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met) rs758758266 0.00013
NM_001849.4(COL6A2):c.542G>A (p.Arg181His) rs371640468 0.00013
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=) rs151295731 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001849.4(COL6A2):c.2671G>A (p.Ala891Thr) rs754110764 0.00009
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val) rs373846012 0.00008
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn) rs770387211 0.00007
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.1926C>G (p.Val642=) rs770537140 0.00006
NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn) rs372913372 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_001849.4(COL6A2):c.464A>G (p.His155Arg) rs148187245 0.00006
NM_001849.4(COL6A2):c.698G>A (p.Arg233His) rs146742517 0.00006
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=) rs751688085 0.00005
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile) rs541785316 0.00005
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=) rs189341312 0.00004
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp) rs140643748 0.00004
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982 0.00004
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=) rs145012001 0.00003
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu) rs747184649 0.00003
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile) rs755822013 0.00003
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met) rs145381639 0.00002
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr) rs756242788 0.00001
NM_001849.4(COL6A2):c.115+17del
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
NM_001849.4(COL6A2):c.1395+7del
NM_001849.4(COL6A2):c.1459-8G>A rs546206539
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
NM_001849.4(COL6A2):c.1672-12G>C
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.1816+18del rs150275851
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.1837G>A (p.Ala613Thr) rs146949791
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His) rs376527297
NM_001849.4(COL6A2):c.2461+11G>C
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.901-20CT[2] rs563354608

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