ClinVar Miner

List of variants in gene COL6A2 reported as likely benign by GeneDx

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Gene type:
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Total variants: 105
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HGVS dbSNP
NC_000021.9:g.46125328del
NM_001849.3(COL6A2):c.-27-108G>C
NM_001849.3(COL6A2):c.-43G>T rs1057522012
NM_001849.3(COL6A2):c.1053+193G>A
NM_001849.3(COL6A2):c.1059C>T (p.Pro353=) rs1381119779
NM_001849.3(COL6A2):c.1116+123G>A
NM_001849.3(COL6A2):c.1117-279G>A
NM_001849.3(COL6A2):c.1117-9C>T rs1057523383
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) rs144482400
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) rs140027285
NM_001849.3(COL6A2):c.1194C>T (p.Asn398=)
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.3(COL6A2):c.1332+120A>C
NM_001849.3(COL6A2):c.1332+272G>A
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.138C>T (p.His46=) rs201753549
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1476C>T (p.Pro492=) rs772436808
NM_001849.3(COL6A2):c.1521+10C>T
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=) rs112197239
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) rs147194375
NM_001849.3(COL6A2):c.1620C>T (p.Gly540=) rs774587547
NM_001849.3(COL6A2):c.1671+17C>T rs372188653
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) rs142021066
NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) rs146311719
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1770+11C>T rs755518889
NM_001849.3(COL6A2):c.1817-8C>G rs750444649
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) rs373514837
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.219C>T (p.Phe73=) rs374336669
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) rs398123649
NM_001849.3(COL6A2):c.225G>T (p.Pro75=) rs143678454
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
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.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.3(COL6A2):c.2422+7G>A rs773282809
NM_001849.3(COL6A2):c.2422+7G>T rs773282809
NM_001849.3(COL6A2):c.2423-11C>T rs199952790
NM_001849.3(COL6A2):c.2423-18C>T rs866625140
NM_001849.3(COL6A2):c.2423-18_2423-17ins30
NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.3(COL6A2):c.2461+11G>A rs200484565
NM_001849.3(COL6A2):c.2461+15C>T rs1057002808
NM_001849.3(COL6A2):c.2462-12G>A rs369839157
NM_001849.3(COL6A2):c.2462-5dupC rs797044699
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) rs117668143
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) rs150219725
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) rs116817879
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) rs144516266
NM_001849.3(COL6A2):c.2754C>T (p.Gly918=) rs765055618
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) rs532522222
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.288C>T (p.Tyr96=) rs61735833
NM_001849.3(COL6A2):c.2898G>A (p.Lys966=) rs759502409
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=) rs145460820
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.333G>A (p.Pro111=) rs370531466
NM_001849.3(COL6A2):c.390C>T (p.Arg130=) rs544610322
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.459C>T (p.Thr153=) rs764014106
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.510C>T (p.Cys170=) rs142328765
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.567C>T (p.Ala189=) rs563505047
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) rs150004111
NM_001849.3(COL6A2):c.726C>T (p.Ala242=) rs767184248
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.786C>G (p.Gly262=) rs145500808
NM_001849.3(COL6A2):c.801+209G>A
NM_001849.3(COL6A2):c.81G>A (p.Ser27=) rs111639540
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+19C>T rs373366455
NM_001849.3(COL6A2):c.856-14G>A rs759917394
NM_001849.3(COL6A2):c.999+14C>T rs761013382
NM_001849.3(COL6A2):c.999+71A>T
NM_058174.3(COL6A2):c.1770+17dup rs751366581

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