ClinVar Miner

List of variants in gene COL6A2 reported as benign

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Gene type:
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Total variants: 147
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HGVS dbSNP
GRCh37/hg19 21q22.3(chr21:47551909-47552350)x1
GRCh37/hg19 21q22.3(chr21:47551909-47552386)x1
NC_000021.9:g.46120116del
NC_000021.9:g.46120124_46120125del
NM_001849.3(COL6A2):c.-27-149C>T
NM_001849.3(COL6A2):c.-27-89G>A
NM_001849.3(COL6A2):c.1054-100A>C
NM_001849.3(COL6A2):c.1116+200G>A
NM_001849.3(COL6A2):c.1116+221G>A
NM_001849.3(COL6A2):c.1116+22C>T rs111592472
NM_001849.3(COL6A2):c.1116+32G>A rs7279347
NM_001849.3(COL6A2):c.1117-218A>T
NM_001849.3(COL6A2):c.1117-56C>G
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.116-34G>A rs117154313
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1179+101G>T
NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.1270-169T>C
NM_001849.3(COL6A2):c.1332+26A>G rs3737362
NM_001849.3(COL6A2):c.1332+286C>T
NM_001849.3(COL6A2):c.1332+290T>G
NM_001849.3(COL6A2):c.1332+293T>C
NM_001849.3(COL6A2):c.1332+299dup
NM_001849.3(COL6A2):c.1333-169C>T
NM_001849.3(COL6A2):c.1333-198A>C
NM_001849.3(COL6A2):c.1333-229C>T
NM_001849.3(COL6A2):c.1333-243C>T
NM_001849.3(COL6A2):c.1333-80C>T
NM_001849.3(COL6A2):c.1333-8T>C rs73159701
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1395+234G>A
NM_001849.3(COL6A2):c.1395+82G>A
NM_001849.3(COL6A2):c.1396-133G>C
NM_001849.3(COL6A2):c.1459-168A>G
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1521+212A>G
NM_001849.3(COL6A2):c.1521+21A>G rs1077182
NM_001849.3(COL6A2):c.1522-199_1522-198insT
NM_001849.3(COL6A2):c.1522-36T>C rs9976026
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1572+148C>T
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1573-32C>T rs17272651
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1609-155T>C
NM_001849.3(COL6A2):c.1609-163G>A
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
NM_001849.3(COL6A2):c.1672-12G>A rs113857622
NM_001849.3(COL6A2):c.1672-177T>C
NM_001849.3(COL6A2):c.1672-24C>G rs3746995
NM_001849.3(COL6A2):c.1672-257T>C
NM_001849.3(COL6A2):c.1672-37G>T rs79205686
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1734+35A>G rs55933135
NM_001849.3(COL6A2):c.1735-30A>G rs73382466
NM_001849.3(COL6A2):c.1735-72G>A
NM_001849.3(COL6A2):c.1770+4G>A rs9981981
NM_001849.3(COL6A2):c.1771-159G>A
NM_001849.3(COL6A2):c.1771-25A>G rs2839113
NM_001849.3(COL6A2):c.1816+18delG rs150275851
NM_001849.3(COL6A2):c.1817-33C>T rs2276101
NM_001849.3(COL6A2):c.1817-3dup rs149954350
NM_001849.3(COL6A2):c.1817-4_1817-3dupCC rs149954350
NM_001849.3(COL6A2):c.1817-69T>C
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) rs189341312
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1970-23G>C rs78764604
NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) rs1042917
NM_001849.3(COL6A2):c.2094G>A (p.Ala698=) rs13052956
NM_001849.3(COL6A2):c.2097C>T (p.Gly699=) rs13046639
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.2184G>A (p.Val728=) rs2839114
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=) rs181711180
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2422+112C>A
NM_001849.3(COL6A2):c.2422+93T>C
NM_001849.3(COL6A2):c.2423-35C>A rs16978878
NM_001849.3(COL6A2):c.2423-83T>C
NM_001849.3(COL6A2):c.2461+2100A>C
NM_001849.3(COL6A2):c.2462-204T>C
NM_001849.3(COL6A2):c.2462-2239T>A
NM_001849.3(COL6A2):c.2462-2255C>T
NM_001849.3(COL6A2):c.2462-2299T>C
NM_001849.3(COL6A2):c.2462-2311A>G
NM_001849.3(COL6A2):c.2462-2358G>C
NM_001849.3(COL6A2):c.2462-2458C>T rs76978157
NM_001849.3(COL6A2):c.2462-35C>T rs7279622
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.2605G>A (p.Asp869Asn) rs141021828
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.2697G>C (p.Thr899=) rs11554669
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.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
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.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.663C>T (p.Pro221=) rs59531343
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+29G>A rs11089047
NM_001849.3(COL6A2):c.714+45C>T rs2070957
NM_001849.3(COL6A2):c.714+53C>T
NM_001849.3(COL6A2):c.714+62A>G
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.802-250T>G
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.901-111C>T
NM_001849.3(COL6A2):c.928-19C>T rs762438
NM_001849.3:c.1116+32G>A
NM_001849.3:c.1332+26A>G
NM_001849.3:c.1521+21A>G
NM_001849.3:c.1522-36T>C
NM_001849.3:c.1573-32C>T
NM_001849.3:c.1672-24C>G
NM_001849.3:c.1672-37G>T
NM_001849.3:c.1734+35A>G
NM_001849.3:c.1735-30A>G
NM_001849.3:c.1771-25A>G
NM_001849.3:c.1817-10_1817-9insC
NM_001849.3:c.1817-33C>T
NM_001849.3:c.1970-23G>C
NM_001849.3:c.2423-35C>A
NM_001849.3:c.2462-35C>T
NM_001849.3:c.714+45C>T

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