ClinVar Miner

List of variants in gene COL6A2 reported as benign for not specified

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Total variants: 65
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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.1734+35A>G rs55933135 0.15106
NM_001849.4(COL6A2):c.1522-36T>C rs9976026 0.12352
NM_001849.4(COL6A2):c.1521+21A>G rs1077182 0.11912
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.714+45C>T rs2070957 0.09326
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_001849.4(COL6A2):c.2423-35C>A rs16978878 0.07566
NM_001849.4(COL6A2):c.1817-33C>T rs2276101 0.06112
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.1672-37G>T rs79205686 0.05715
NM_001849.4(COL6A2):c.1573-32C>T rs17272651 0.05679
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_001849.4(COL6A2):c.714+29G>A rs11089047 0.04085
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.116-34G>A rs117154313 0.02070
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.2462-2458C>T rs76978157 0.01258
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.1116+22C>T rs111592472 0.00341
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.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162

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