ClinVar Miner

List of variants in gene COL6A2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
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.1269+32C>T rs76825716 0.01637
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.2136C>T (p.Asp712=) rs114554195 0.00347
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.1116+39C>T rs180796593 0.00302
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.2332G>A (p.Asp778Asn) rs28562813 0.00242
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.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001849.4(COL6A2):c.2423-48C>T rs201367713 0.00181
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00077
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_001849.4(COL6A2):c.2462-12G>A rs369839157 0.00053
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001849.4(COL6A2):c.1609-46A>G rs182834722 0.00027
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_001849.4(COL6A2):c.802-45C>T rs200902198 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.1522-20G>A rs368072665 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) rs146333253 0.00014
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 0.00013
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.116-6C>T rs761805565 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=) rs758646770 0.00005
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=) rs377458657 0.00003
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) rs541325013 0.00003
NM_001849.4(COL6A2):c.1672-25C>T rs777715877 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2461+2643G>A rs748960649 0.00001
NM_001849.4(COL6A2):c.2461+42G>A rs202043587 0.00001
NM_001849.4(COL6A2):c.-6G>T
NM_001849.4(COL6A2):c.1269+32C>G rs76825716
NM_001849.4(COL6A2):c.1672-45T>A rs539239812
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=) rs764878153
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1791C>T (p.Tyr597=)
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496
NM_001849.4(COL6A2):c.2292C>T (p.His764=)
NM_001849.4(COL6A2):c.2422+3G>A
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2461+2354C>T
NM_001849.4(COL6A2):c.2462-2433C>G
NM_001849.4(COL6A2):c.2462-2441G>C
NM_001849.4(COL6A2):c.2462-2442C>T
NM_001849.4(COL6A2):c.2499C>T (p.Asp833=) rs886038497
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2856G>T (p.Thr952=)
NM_001849.4(COL6A2):c.735+27T>G
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
NM_058174.3(COL6A2):c.2469G>A (p.Pro823=)
NM_058174.3(COL6A2):c.2635G>A (p.Glu879Lys)
NM_058174.3(COL6A2):c.2643C>G (p.Ala881=)
NM_058174.3(COL6A2):c.2655C>T (p.Thr885=)
NM_058174.3(COL6A2):c.2733C>T (p.Pro911=)
NM_058174.3(COL6A2):c.2739C>T (p.Thr913=)
NM_058174.3(COL6A2):c.2745G>C (p.Leu915=)

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