ClinVar Miner

List of variants in gene COL6A2 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.85505
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74081
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.2094G>A (p.Ala698=) rs13052956 0.44324
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44323
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 0.11767
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 0.03502
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03177
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.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00931
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 0.00324
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00318
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00280
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
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 0.00186
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 0.00127
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 0.00078
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00064
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=) rs772623467 0.00050
NM_001849.4(COL6A2):c.1969+17C>T rs539735984 0.00050
NM_001849.4(COL6A2):c.928-9C>T rs200571090 0.00048
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00045
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=) rs143168888 0.00031
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe) rs375966817 0.00026
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00026
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00025
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00025
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.138C>T (p.His46=) rs201753549 0.00015
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00013
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met) rs758758266 0.00013
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=) rs151295731 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.2711C>T (p.Ala904Val) rs376665722 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930 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 0.00005
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982 0.00005
NM_001849.4(COL6A2):c.1194C>T (p.Asn398=) rs1158137469 0.00004
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp) rs140643748 0.00004
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=) rs145012001 0.00003
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=) rs149601961 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.1375G>A (p.Val459Ile) rs1382969430 0.00001
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr) rs768102862 0.00001
NM_001849.4(COL6A2):c.2631G>A (p.Val877=) rs1383156451 0.00001
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr) rs756242788 0.00001
NM_001849.4(COL6A2):c.115+17del rs2516988436
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.4(COL6A2):c.1395+7del rs2517005106
NM_001849.4(COL6A2):c.1459-8G>A rs546206539
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1672-12G>C rs113857622
NM_001849.4(COL6A2):c.179A>G (p.Gln60Arg)
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.1884C>T (p.Tyr628=)
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His) rs376527297
NM_001849.4(COL6A2):c.2461+11G>C rs200484565
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.901-20CT[2] rs563354608

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.