ClinVar Miner

List of variants in gene COL6A2 reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1521+212A>G rs915785 0.99997
NM_001849.4(COL6A2):c.1609-134dup rs5844253 0.99971
NM_001849.4(COL6A2):c.-28+99T>C rs2277817 0.87229
NM_001849.4(COL6A2):c.1333-198A>C rs13051907 0.86953
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.85505
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_001849.4(COL6A2):c.1117-218A>T rs2070577 0.81646
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1672-257T>C rs2839111 0.80751
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74081
NM_001849.4(COL6A2):c.1116+200G>A rs7279535 0.72676
NM_001849.4(COL6A2):c.802-250T>G rs8133910 0.70308
NM_001849.4(COL6A2):c.1116+221G>A rs12483267 0.64517
NM_001849.4(COL6A2):c.2422+93T>C rs13050660 0.59886
NM_001849.4(COL6A2):c.1333-229C>T rs4458293 0.56432
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.1395+234G>A rs743504 0.45766
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.1333-243C>T rs2330397 0.44946
NM_001849.4(COL6A2):c.1333-169C>T rs13051514 0.44664
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.2462-2239T>A rs1044598 0.44226
NM_001849.4(COL6A2):c.-27-149C>T rs13050828 0.44009
NM_001849.4(COL6A2):c.714+53C>T rs1010688 0.43341
NM_001849.4(COL6A2):c.1572+148C>T rs2070578 0.42695
NM_001849.4(COL6A2):c.2461+2100A>C rs2839116 0.33720
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1395+82G>A rs743503 0.29344
NM_001849.4(COL6A2):c.1270-169T>C rs9980483 0.27115
NM_001849.4(COL6A2):c.1179+101G>T rs9917540 0.26333
NM_001849.4(COL6A2):c.1522-199_1522-198insT rs113533729 0.20666
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001849.4(COL6A2):c.1609-155T>C rs17272671 0.17125
NM_001849.4(COL6A2):c.1734+35A>G rs55933135 0.15106
NM_001849.4(COL6A2):c.1817-69T>C rs16978870 0.15050
NM_001849.4(COL6A2):c.1672-177T>C rs2839112 0.14793
NM_001849.4(COL6A2):c.1332+286C>T rs6147541 0.13705
NM_001849.4(COL6A2):c.2462-2358G>C rs7717 0.12590
NM_001849.4(COL6A2):c.2462-2299T>C rs559 0.12552
NM_001849.4(COL6A2):c.1522-36T>C rs9976026 0.12210
NM_001849.4(COL6A2):c.1459-168A>G rs1076850 0.11843
NM_001849.4(COL6A2):c.1521+21A>G rs1077182 0.11799
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.1333-264G>A rs73908533 0.09396
NM_001849.4(COL6A2):c.1332+293T>C rs13047567 0.09327
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.1332+290T>G rs113862910 0.08710
NM_001849.4(COL6A2):c.2462-2255C>T rs3088026 0.08233
NM_001849.4(COL6A2):c.2423-35C>A rs16978878 0.07566
NM_001849.4(COL6A2):c.2422+112C>A rs79666692 0.07152
NM_001849.4(COL6A2):c.1671+180C>T rs78767263 0.06810
NM_001849.4(COL6A2):c.901-111C>T rs2839109 0.06181
NM_001849.4(COL6A2):c.1735-72G>A rs9981879 0.06148
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.1771-159G>A rs73382469 0.06084
NM_001849.4(COL6A2):c.1000-168C>T rs75988761 0.06042
NM_001849.4(COL6A2):c.2423-83T>C rs17272947 0.05826
NM_001849.4(COL6A2):c.714+62A>G rs112472569 0.05824
NM_001849.4(COL6A2):c.2462-2311A>G rs73161620 0.05778
NM_001849.4(COL6A2):c.1672-37G>T rs79205686 0.05754
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.901-125G>A rs41353548 0.05041
NM_001849.4(COL6A2):c.1609-163G>A rs80117819 0.04494
NM_001849.4(COL6A2):c.1000-92G>A rs143691012 0.04049
NM_001849.4(COL6A2):c.2462-172C>T rs2839123 0.03940
NM_001849.4(COL6A2):c.714+29G>A rs11089047 0.03805
NM_001849.4(COL6A2):c.714+102G>A rs11089048 0.03788
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03502
NM_001849.4(COL6A2):c.2462-274G>A rs16978913 0.03233
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.-27-265G>T rs112710668 0.02646
NM_001849.4(COL6A2):c.1522-215G>A rs115951307 0.02111
NM_001849.4(COL6A2):c.1333-195G>T rs114984641 0.02052
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.2462-2172T>C rs114837591 0.01835
NM_001849.4(COL6A2):c.-27-89G>A rs115342490 0.01650
NM_001849.4(COL6A2):c.1117-56C>G rs79332626 0.01634
NM_001849.4(COL6A2):c.1054-100A>C rs114067391 0.01626
NM_001849.4(COL6A2):c.-27-243C>A rs9977654 0.01520
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.801+57T>C rs114008288 0.00719
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.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.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.1053+58C>T rs57870436
NM_001849.4(COL6A2):c.1054-119dup rs5844252
NM_001849.4(COL6A2):c.1117-204C>T rs73382451
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1332+271del rs3831407
NM_001849.4(COL6A2):c.1332+277_1332+278del rs3831408
NM_001849.4(COL6A2):c.1332+299dup rs56335207
NM_001849.4(COL6A2):c.1332+303_1332+304dup rs56053057
NM_001849.4(COL6A2):c.1333-80C>T rs79433633
NM_001849.4(COL6A2):c.1396-133G>C rs55964853
NM_001849.4(COL6A2):c.1671+254_1671+332del rs1568936278
NM_001849.4(COL6A2):c.1672-103del rs36033678
NM_001849.4(COL6A2):c.1672-104_1672-103del rs36033678
NM_001849.4(COL6A2):c.1672-111C>T rs369935000
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.2423-22_2423-18dup rs138363207
NM_001849.4(COL6A2):c.2462-204T>C rs2839122
NM_001849.4(COL6A2):c.736-160del rs149477463
NM_001849.4(COL6A2):c.999+113AC[14] rs59060956
NM_001849.4(COL6A2):c.999+113AC[16] rs59060956
NM_001849.4(COL6A2):c.999+113AC[17] rs59060956
NM_001849.4(COL6A2):c.999+113AC[18] rs59060956
NM_001849.4(COL6A2):c.999+113AC[19] rs59060956
NM_001849.4(COL6A2):c.999+113AC[20] rs59060956

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