ClinVar Miner

List of variants in gene COL11A2 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_080680.3(COL11A2):c.3960+151C>T rs986521 0.81243
NM_080680.3(COL11A2):c.4015-82T>C rs2855449 0.79000
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_080680.3(COL11A2):c.1872+199T>C rs2855423 0.78474
NM_080680.3(COL11A2):c.2988+57A>C rs973233 0.77898
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_080680.3(COL11A2):c.3691-136G>A rs2855442 0.77803
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_080680.3(COL11A2):c.2116-110C>T rs2855425 0.77762
NM_080680.3(COL11A2):c.2737-93T>C rs2855432 0.77323
NM_080680.3(COL11A2):c.2430+51G>C rs2855428 0.77298
NM_080680.3(COL11A2):c.3474+89A>G rs2855440 0.75007
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_080680.3(COL11A2):c.3367-53del rs9280358 0.73546
NM_080680.3(COL11A2):c.3852+94C>T rs2855446 0.72286
NM_080680.3(COL11A2):c.4864-88C>T rs2744514 0.67153
NM_080680.3(COL11A2):c.5071-139T>C rs2257126 0.66945
NM_080680.3(COL11A2):c.4393-119A>G rs3116955 0.66864
NM_080680.3(COL11A2):c.4751-190G>A rs2855455 0.66821
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_080680.3(COL11A2):c.4015-81G>A rs2855450 0.66232
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_080680.3(COL11A2):c.3637-66G>A rs2855441 0.59077
NM_080680.3(COL11A2):c.2629-57G>A rs970902 0.58137
NM_080680.3(COL11A2):c.2377-182C>T rs3762013 0.58076
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_080680.3(COL11A2):c.1917+70G>T rs2076311 0.31477
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_080680.3(COL11A2):c.2268+37T>C rs2071025 0.28622
NM_001424111.1(COL11A2):c.-765+377C>A rs9277935 0.23780
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_080680.3(COL11A2):c.5070+151G>A rs9405002 0.21681
NM_080680.3(COL11A2):c.2376+215C>T rs2855426 0.19591
NC_000006.12:g.33162653G>A rs2235498 0.19140
NM_080680.3(COL11A2):c.3366+52T>A rs2855438 0.15227
NM_080680.3(COL11A2):c.1119+250A>T rs116626305 0.14838
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_080680.3(COL11A2):c.1119+134A>G rs116015488 0.14176
NM_080680.3(COL11A2):c.940-247C>A rs115052745 0.14176
NM_080680.3(COL11A2):c.940-286T>C rs114128868 0.14170
NM_080680.3(COL11A2):c.2115+32G>T rs41317098 0.11537
NM_080680.3(COL11A2):c.3582+88A>G rs41317094 0.11515
NM_080680.3(COL11A2):c.799-278T>C rs3129200 0.11294
NM_080680.3(COL11A2):c.4864-115A>G rs28711386 0.10735
NM_080680.3(COL11A2):c.798+355C>T rs12526336 0.10708
NM_080680.3(COL11A2):c.4864-64C>T rs73408005 0.10695
NM_080680.3(COL11A2):c.1119+42G>T rs41317102 0.10656
NM_080680.3(COL11A2):c.877-135T>G rs115879584 0.10571
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_080680.3(COL11A2):c.607-61C>T rs2855459 0.09764
NM_080680.3(COL11A2):c.1818+32G>C rs2855422 0.09655
NM_080680.3(COL11A2):c.3960+220C>T rs115641163 0.09440
NM_080680.3(COL11A2):c.3690+38G>A rs78244274 0.08975
NM_080680.3(COL11A2):c.3582+82C>T rs9368758 0.08969
NM_080680.3(COL11A2):c.3637-28G>A rs9277929 0.08449
NM_080680.3(COL11A2):c.4230+47C>T rs73408007 0.07485
NM_080680.3(COL11A2):c.4750+286C>T rs79131379 0.05857
NM_080680.3(COL11A2):c.3043-38T>G rs73741526 0.05248
NM_080680.3(COL11A2):c.3529-44A>G rs16868900 0.04873
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784 0.04406
NM_080680.3(COL11A2):c.3960+235G>A rs73741509 0.04202
NM_080680.3(COL11A2):c.3258+60C>G rs73741524 0.04034
NM_080680.3(COL11A2):c.939+26C>T rs6910886 0.03527
NM_080680.3(COL11A2):c.1360-145C>T rs16868943 0.02957
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_080680.3(COL11A2):c.-174C>A rs138299820 0.02580
NM_080680.3(COL11A2):c.3798+99G>A rs115196704 0.02565
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_080680.3(COL11A2):c.1222-45C>T rs116879480 0.00350
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.1665+46C>T rs117200425 0.00233
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.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
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.1972-16C>T rs117435723 0.00181
NM_080680.3(COL11A2):c.1917+21C>T rs117126784 0.00179
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
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.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
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.5000G>A (p.Arg1667His) rs146555195 0.00103
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.4863+23C>T rs201638200 0.00059
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
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.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.2215-20C>G rs377599938 0.00047
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296 0.00029
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
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.1873-14A>G rs149099562 0.00021
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 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.4590C>T (p.Thr1530=) rs375329541 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 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.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 0.00012
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
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.2849C>T (p.Pro950Leu) rs141465781 0.00009
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
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.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met) rs752706766 0.00006
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His) rs756194499 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_080680.3(COL11A2):c.4379C>T (p.Pro1460Leu) rs539241662 0.00005
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.2737-10C>T rs532758934 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr) rs759017753 0.00004
NM_080680.3(COL11A2):c.4230+19C>T rs756881678 0.00004
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser) rs779385536 0.00004
NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val) rs772312309 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.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_080680.3(COL11A2):c.4537C>T (p.Arg1513Trp) rs199615717 0.00003
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) rs778295133 0.00003
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.1293T>A (p.Pro431=) rs1053040514 0.00002
NM_080680.3(COL11A2):c.3329C>G (p.Pro1110Arg) rs377242569 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5203A>T (p.Met1735Leu) rs1048273373 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu) rs1049821607 0.00002
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1394C>A (p.Pro465His) rs979641184 0.00001
NM_080680.3(COL11A2):c.1799G>A (p.Arg600Gln) rs763854550 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=) rs775487504 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln) rs1411737210 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.4507C>T (p.Pro1503Ser) rs137923568 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_080680.3(COL11A2):c.1119+217_1119+219del rs144322229
NM_080680.3(COL11A2):c.1120-200del rs56076919
NM_080680.3(COL11A2):c.1120-205G>C rs2855416
NM_080680.3(COL11A2):c.1222-19del
NM_080680.3(COL11A2):c.1308C>A (p.Leu436=)
NM_080680.3(COL11A2):c.1428G>A (p.Ala476=)
NM_080680.3(COL11A2):c.1519C>G (p.Pro507Ala)
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1885A>G (p.Met629Val)
NM_080680.3(COL11A2):c.1980C>T (p.Pro660=) rs2229786
NM_080680.3(COL11A2):c.2070+14dup
NM_080680.3(COL11A2):c.2214+17del
NM_080680.3(COL11A2):c.2214+88G>C rs2254287
NM_080680.3(COL11A2):c.2430+142G>T rs2076312
NM_080680.3(COL11A2):c.2431-18del rs9280359
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2529+13del rs763299239
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2587A>T (p.Thr863Ser)
NM_080680.3(COL11A2):c.2609A>G (p.His870Arg)
NM_080680.3(COL11A2):c.2629-15del
NM_080680.3(COL11A2):c.2629-15dup rs727502942
NM_080680.3(COL11A2):c.2650C>T (p.Pro884Ser)
NM_080680.3(COL11A2):c.2655C>T (p.Asn885=)
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.2988+53C>A rs10428747
NM_080680.3(COL11A2):c.3042+12del
NM_080680.3(COL11A2):c.3043-65T>C rs2855434
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3150+13del
NM_080680.3(COL11A2):c.3167T>C (p.Ile1056Thr)
NM_080680.3(COL11A2):c.3313-20_3313-17del rs574904915
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3475-83del rs145273015
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala) rs374515005
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)
NM_080680.3(COL11A2):c.3748C>T (p.Pro1250Ser)
NM_080680.3(COL11A2):c.3852+50dup rs113461359
NM_080680.3(COL11A2):c.3968C>T (p.Ala1323Val)
NM_080680.3(COL11A2):c.4089C>T (p.Gly1363=)
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)
NM_080680.3(COL11A2):c.4319C>T (p.Pro1440Leu)
NM_080680.3(COL11A2):c.4428+13del
NM_080680.3(COL11A2):c.4483-19del rs541400388
NM_080680.3(COL11A2):c.4582A>G (p.Ile1528Val)
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=) rs151319255
NM_080680.3(COL11A2):c.4939G>A (p.Ala1647Thr)
NM_080680.3(COL11A2):c.5191C>T (p.Pro1731Ser)
NM_080680.3(COL11A2):c.799-9del
NM_080680.3(COL11A2):c.799-9dup
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu)
NM_080680.3(COL11A2):c.877-291G>C rs2744505
NM_080680.3(COL11A2):c.885C>T (p.Thr295=)
NM_080680.3(COL11A2):c.972C>T (p.Ala324=)
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491

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