ClinVar Miner

List of variants in gene COL11A2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.82+272A>G rs9469378 0.03705
NM_080680.3(COL11A2):c.4751-194A>T rs114840990 0.02039
NM_080680.3(COL11A2):c.83-55A>T rs56297647 0.01649
NM_080680.3(COL11A2):c.2737-86A>G rs73741531 0.01055
NM_080680.3(COL11A2):c.876+128T>C rs139969885 0.01010
NM_080680.3(COL11A2):c.1285-58A>G rs115849873 0.00926
NM_080680.3(COL11A2):c.3636+74G>C rs45596935 0.00915
NM_080680.3(COL11A2):c.607-103C>G rs2855458 0.00840
NM_080680.3(COL11A2):c.4015-86C>T rs146288830 0.00832
NM_080680.3(COL11A2):c.1818+42G>A rs73741534 0.00665
NM_080680.3(COL11A2):c.876+31C>T rs113453266 0.00655
NM_080680.3(COL11A2):c.5070+30T>G rs368369144 0.00573
NM_080680.3(COL11A2):c.3798+147C>T rs186104309 0.00553
NM_080680.3(COL11A2):c.1665+78A>C rs116702160 0.00436
NM_080680.3(COL11A2):c.4393-28C>T rs144062635 0.00399
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_080680.3(COL11A2):c.1971+66G>C rs534413262 0.00188
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_080680.3(COL11A2):c.233-47C>T rs55726242 0.00175
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_080680.3(COL11A2):c.2116-34G>A rs74591914 0.00103
NM_080680.3(COL11A2):c.4015-48C>T rs370994730 0.00097
NM_080680.3(COL11A2):c.2989-37C>T rs367736116 0.00094
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_080680.3(COL11A2):c.2266A>C (p.Arg756=) rs138083769 0.00071
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_080680.3(COL11A2):c.1504-21A>T rs199869383 0.00051
NM_080680.3(COL11A2):c.1719+51G>A rs370055023 0.00051
NM_080680.3(COL11A2):c.1971+45T>C rs377409299 0.00051
NM_080680.3(COL11A2):c.2170-39C>T rs375287016 0.00051
NM_080680.3(COL11A2):c.2583+31C>T rs369777341 0.00051
NM_080680.3(COL11A2):c.2431-11G>A rs368695514 0.00048
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=) rs753871660 0.00038
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
NM_080680.3(COL11A2):c.2187G>C (p.Arg729=) rs551411073 0.00032
NM_080680.3(COL11A2):c.882C>T (p.Pro294=) rs566296770 0.00032
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296 0.00029
NM_080680.3(COL11A2):c.1998C>T (p.Ile666=) rs373989427 0.00029
NM_080680.3(COL11A2):c.1504-9C>T rs367757994 0.00024
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_080680.3(COL11A2):c.1819-18_1819-9del rs767645840 0.00022
NM_080680.3(COL11A2):c.1560C>A (p.Gly520=) rs370680294 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_080680.3(COL11A2):c.4751-12C>G rs921581176 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.2085G>A (p.Lys695=) rs368770525 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080680.3(COL11A2):c.4860G>A (p.Thr1620=) rs200099239 0.00015
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824 0.00013
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.813C>T (p.Leu271=) rs143505163 0.00012
NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=) rs537455619 0.00010
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
NM_080680.3(COL11A2):c.1666-9T>G rs181999673 0.00009
NM_080680.3(COL11A2):c.2628+14G>A rs559123089 0.00009
NM_080680.3(COL11A2):c.3021G>A (p.Pro1007=) rs370652074 0.00009
NM_080680.3(COL11A2):c.3999A>G (p.Gly1333=) rs201392156 0.00009
NM_080680.3(COL11A2):c.483C>T (p.Val161=) rs754610645 0.00009
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00009
NM_080680.3(COL11A2):c.4821A>C (p.Ala1607=) rs749261447 0.00008
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.4056G>A (p.Pro1352=) rs769169475 0.00007
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.1236C>G (p.Pro412=) rs541288921 0.00006
NM_080680.3(COL11A2):c.1971+6C>T rs746341530 0.00006
NM_080680.3(COL11A2):c.2268+8G>A rs373463428 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.291A>G (p.Gln97=) rs538869102 0.00005
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429 0.00005
NM_080680.3(COL11A2):c.-44G>A rs750744838 0.00004
NM_080680.3(COL11A2):c.1665+17C>T rs543296211 0.00004
NM_080680.3(COL11A2):c.2433G>C (p.Gly811=) rs780265815 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2899-11T>C rs932914745 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 0.00004
NM_080680.3(COL11A2):c.5028G>A (p.Pro1676=) rs144290562 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_080680.3(COL11A2):c.-21C>G rs767695417 0.00003
NM_080680.3(COL11A2):c.1971+20C>T rs770912127 0.00003
NM_080680.3(COL11A2):c.2214+19G>A rs370515541 0.00003
NM_080680.3(COL11A2):c.2430+19C>T rs764083806 0.00003
NM_080680.3(COL11A2):c.324T>C (p.Gly108=) rs935876736 0.00003
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=) rs201642192 0.00003
NM_080680.3(COL11A2):c.4356C>T (p.Ser1452=) rs199515114 0.00003
NM_080680.3(COL11A2):c.606+11C>T rs368302768 0.00003
NM_080680.3(COL11A2):c.1557+19T>C rs374716901 0.00002
NM_080680.3(COL11A2):c.1971+12C>T rs201383281 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5113C>T (p.Leu1705=) rs367748056 0.00002
NM_080680.3(COL11A2):c.1260C>T (p.Gly420=) rs779224706 0.00001
NM_080680.3(COL11A2):c.1284+15T>C rs1057524527 0.00001
NM_080680.3(COL11A2):c.144G>A (p.Arg48=) rs373983197 0.00001
NM_080680.3(COL11A2):c.1524C>T (p.Gly508=) rs1465511059 0.00001
NM_080680.3(COL11A2):c.1665+15C>A rs781663197 0.00001
NM_080680.3(COL11A2):c.1719+19G>A rs752762822 0.00001
NM_080680.3(COL11A2):c.2116-8T>C rs778098198 0.00001
NM_080680.3(COL11A2):c.232+19G>A rs766263650 0.00001
NM_080680.3(COL11A2):c.2718A>C (p.Pro906=) rs769310840 0.00001
NM_080680.3(COL11A2):c.300C>G (p.Leu100=) rs773467866 0.00001
NM_080680.3(COL11A2):c.3637-19G>T rs1427818109 0.00001
NM_080680.3(COL11A2):c.5071-10C>T rs771886624 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.678G>A (p.Leu226=) rs1477141287 0.00001
NM_080680.3(COL11A2):c.789C>T (p.Pro263=) rs1480123800 0.00001
NM_080680.3(COL11A2):c.*7CT[1] rs748994421
NM_080680.3(COL11A2):c.1119+14G>A rs1554223383
NM_080680.3(COL11A2):c.1221G>A (p.Ala407=) rs1554221935
NM_080680.3(COL11A2):c.1359+17del rs765250820
NM_080680.3(COL11A2):c.1612-3C>T
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1806G>A (p.Leu602=) rs1583343003
NM_080680.3(COL11A2):c.1851A>G (p.Pro617=) rs768060130
NM_080680.3(COL11A2):c.1980C>T (p.Pro660=) rs2229786
NM_080680.3(COL11A2):c.2136A>C (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2215-9C>G rs373659846
NM_080680.3(COL11A2):c.2430+15C>T rs1471667955
NM_080680.3(COL11A2):c.2431-68C>G rs541250351
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2658G>A (p.Gly886=) rs762110287
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2730A>G (p.Gly910=) rs1554218154
NM_080680.3(COL11A2):c.2988+14C>G rs1554217416
NM_080680.3(COL11A2):c.3043-10G>A rs1583313311
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3366+21del rs764291451
NM_080680.3(COL11A2):c.3528+8_3528+9del rs1343647230
NM_080680.3(COL11A2):c.3543C>T (p.Pro1181=) rs1554215751
NM_080680.3(COL11A2):c.3690+9C>T rs1397368233
NM_080680.3(COL11A2):c.3831C>T (p.Pro1277=) rs1007732519
NM_080680.3(COL11A2):c.4338+19C>A rs1554212804
NM_080680.3(COL11A2):c.4344C>A (p.Ile1448=) rs554269032
NM_080680.3(COL11A2):c.4425C>A (p.Ala1475=) rs2150519879
NM_080680.3(COL11A2):c.4689C>T (p.Thr1563=) rs1057523656
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=) rs151319255
NM_080680.3(COL11A2):c.4864-32_4864-7del rs767389906
NM_080680.3(COL11A2):c.4864-58CCCTCTGAGGCCAGCCCTCTCTCTCC[3] rs767389906
NM_080680.3(COL11A2):c.83-24_83-22del rs755962760
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.