ClinVar Miner

List of variants in gene COL11A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1413+156T>A rs41309169 0.02414
NM_001854.4(COL11A1):c.2556+239C>A rs111430380 0.02394
NM_001854.4(COL11A1):c.1846-270C>T rs71664955 0.02252
NM_001854.4(COL11A1):c.2197-240C>T rs140604412 0.02151
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_001854.4(COL11A1):c.5275-295A>T rs12133288 0.02048
NM_001854.4(COL11A1):c.275-113A>C rs12133536 0.01998
NM_001854.4(COL11A1):c.2197-262A>G rs71664953 0.01972
NM_001854.4(COL11A1):c.3762+76G>C rs142849188 0.01709
NM_001854.4(COL11A1):c.489-167C>T rs79300645 0.01587
NM_001854.4(COL11A1):c.274+63C>T rs114110904 0.01575
NM_001854.4(COL11A1):c.651+61A>G rs77713323 0.01560
NM_001854.4(COL11A1):c.489-99C>T rs116786201 0.01556
NM_001854.4(COL11A1):c.651+309G>A rs114450408 0.01554
NM_001854.4(COL11A1):c.1350+176T>C rs72987806 0.01478
NM_001854.4(COL11A1):c.4859-148G>A rs73000260 0.01465
NM_001854.4(COL11A1):c.897+207A>G rs58786692 0.01464
NM_001854.4(COL11A1):c.4303-21T>A rs181904530 0.01437
NM_001854.4(COL11A1):c.2341-310T>C rs142576727 0.01368
NM_001854.4(COL11A1):c.2917-197C>G rs78602581 0.01316
NM_001854.4(COL11A1):c.3708+182G>T rs74984164 0.01307
NM_001854.4(COL11A1):c.898-38T>A rs79473144 0.01304
NM_001854.4(COL11A1):c.4086+182C>A rs74108054 0.01279
NM_001854.4(COL11A1):c.4303-312T>C rs182493920 0.01186
NM_001854.4(COL11A1):c.2098-45C>T rs114248131 0.01137
NM_001854.4(COL11A1):c.2755-58T>C rs41301263 0.01137
NM_001854.4(COL11A1):c.274+145C>A rs115125690 0.01130
NM_001854.4(COL11A1):c.274+45A>G rs114453998 0.01130
NM_001854.4(COL11A1):c.4249-94T>G rs41292527 0.01055
NM_001854.4(COL11A1):c.3277-63T>C rs140740778 0.00966
NM_001854.4(COL11A1):c.5040+282T>C rs74687046 0.00951
NM_001854.4(COL11A1):c.4302+285C>A rs74316938 0.00947
NM_001854.4(COL11A1):c.3925-124C>T rs146056203 0.00935
NM_001854.4(COL11A1):c.2503-239C>T rs72985779 0.00918
NM_001854.4(COL11A1):c.990+69C>T rs41292531 0.00911
NM_001854.4(COL11A1):c.3924+94A>G rs138811537 0.00891
NM_001854.4(COL11A1):c.3817-270A>G rs148448528 0.00861
NM_001854.4(COL11A1):c.107-206G>A rs114694485 0.00778
NM_001854.4(COL11A1):c.2557-138G>A rs114094014 0.00725
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00700
NM_001854.4(COL11A1):c.*704T>C rs74108028 0.00636
NM_001854.4(COL11A1):c.3978+146C>T rs74765205 0.00594
NM_001854.4(COL11A1):c.4858+305_4858+306del rs554200136 0.00575
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_001854.4(COL11A1):c.4303-100G>A rs151074940 0.00527
NM_001854.4(COL11A1):c.990+191C>T rs190936891 0.00497
NM_001854.4(COL11A1):c.2916+27G>A rs147069719 0.00469
NM_001854.4(COL11A1):c.2754+69A>G rs11800347 0.00468
NM_001854.4(COL11A1):c.3276+277_3276+278insC rs534159498 0.00432
NM_001854.4(COL11A1):c.651+223G>A rs139319371 0.00407
NM_001854.4(COL11A1):c.2862+200G>C rs111771790 0.00400
NM_001854.4(COL11A1):c.651+130C>G rs189594192 0.00399
NM_001854.4(COL11A1):c.4302+219T>G rs191669198 0.00392
NM_001854.4(COL11A1):c.2340+310T>C rs116273668 0.00391
NM_001854.4(COL11A1):c.2394+203T>C rs189297916 0.00391
NM_001854.4(COL11A1):c.4608+130A>C rs116183789 0.00386
NM_001854.4(COL11A1):c.3276+152G>T rs189834282 0.00382
NM_001854.4(COL11A1):c.2917-88G>A rs112756367 0.00346
NC_000001.11:g.103108723C>T rs72987897 0.00344
NM_001854.4(COL11A1):c.2557-36G>T rs2622845 0.00331
NM_001854.4(COL11A1):c.2709+48C>A rs149239409 0.00331
NM_001854.4(COL11A1):c.3168+31A>G rs116365261 0.00327
NM_001854.4(COL11A1):c.1999-145T>C rs114036408 0.00304
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_001854.4(COL11A1):c.898-185T>C rs138792819 0.00263
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.3925-11C>T rs192518657 0.00213
NM_001854.4(COL11A1):c.1246-217T>C rs551276545 0.00191
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00172
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=) rs138691968 0.00097
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_001854.4(COL11A1):c.3384+18G>A rs200425985 0.00066
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.489-4T>A rs371357098 0.00032
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile) rs143159512 0.00030
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.-50A>G rs369810404 0.00026
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) rs143531636 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797 0.00022
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_001854.4(COL11A1):c.1246-6C>T rs199855455 0.00016
NM_001854.4(COL11A1):c.3115-12C>T rs1009682657 0.00015
NM_001854.4(COL11A1):c.4032+18T>C rs190625412 0.00015
NM_001854.4(COL11A1):c.1630-13T>C rs370547604 0.00014
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.882A>G (p.Thr294=) rs201141662 0.00013
NM_001854.4(COL11A1):c.3438+11T>C rs765352070 0.00011
NM_001854.4(COL11A1):c.4200T>C (p.Pro1400=) rs370559180 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.1032G>A (p.Thr344=) rs367998577 0.00008
NM_001854.4(COL11A1):c.4033-12C>T rs745961028 0.00008
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.*9C>G rs371551881 0.00007
NM_001854.4(COL11A1):c.1684-7G>C rs201494436 0.00006
NM_001854.4(COL11A1):c.3600+8G>A rs188045535 0.00006
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_001854.4(COL11A1):c.1683+20C>G rs373143275 0.00005
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.2295+5C>T rs369103119 0.00004
NM_001854.4(COL11A1):c.2610+18G>A rs750906344 0.00004
NM_001854.4(COL11A1):c.275-14C>T rs370321983 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.4141-8T>A rs373760183 0.00004
NM_001854.4(COL11A1):c.4656A>G (p.Lys1552=) rs769593192 0.00004
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=) rs371490794 0.00003
NM_001854.4(COL11A1):c.1998+11C>T rs375664445 0.00003
NM_001854.4(COL11A1):c.2754+50A>C rs202051513 0.00003
NM_001854.4(COL11A1):c.2925C>T (p.Thr975=) rs369136682 0.00003
NM_001854.4(COL11A1):c.35G>A (p.Arg12Gln) rs767496065 0.00003
NM_001854.4(COL11A1):c.426C>T (p.His142=) rs561435432 0.00003
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) rs770392400 0.00003
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.3025-6C>T rs780046337 0.00002
NM_001854.4(COL11A1):c.3493-5T>G rs746535602 0.00002
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=) rs139726483 0.00002
NM_001854.4(COL11A1):c.4710T>C (p.Leu1570=) rs1362430090 0.00002
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842 0.00002
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=) rs375667862 0.00002
NM_001854.4(COL11A1):c.483C>T (p.Asp161=) rs557000127 0.00002
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=) rs762727530 0.00001
NM_001854.4(COL11A1):c.1899+16T>G rs767808576 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2556+14A>G rs1365339245 0.00001
NM_001854.4(COL11A1):c.2557-11T>C rs772339745 0.00001
NM_001854.4(COL11A1):c.2557-14T>C rs546175264 0.00001
NM_001854.4(COL11A1):c.2808+14C>G rs1015791965 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.4033-10C>T rs763204252 0.00001
NM_001854.4(COL11A1):c.4452A>G (p.Ala1484=) rs1289745561 0.00001
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=) rs575231157 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.477C>T (p.Ile159=) rs769155547 0.00001
NM_001854.4(COL11A1):c.4859-19A>G rs146179957 0.00001
NM_001854.4(COL11A1):c.777T>C (p.Asp259=) rs1010215837 0.00001
NM_001854.4(COL11A1):c.990+11T>G rs750665036 0.00001
NM_001854.4(COL11A1):c.107-27G>T rs116458923
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1246-258_1246-253dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-254dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-255dup rs11381607
NM_001854.4(COL11A1):c.1246-258_1246-256dup rs11381607
NM_001854.4(COL11A1):c.1246-9A>C rs375455188
NM_001854.4(COL11A1):c.1308+20C>A rs750685039
NM_001854.4(COL11A1):c.1351-169del rs141009352
NM_001854.4(COL11A1):c.1573-15T>C rs772291375
NM_001854.4(COL11A1):c.1573-204_1573-203del rs557530220
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=) rs746478999
NM_001854.4(COL11A1):c.1683+84dup rs79750249
NM_001854.4(COL11A1):c.1737+56ATTT[8] rs59259783
NM_001854.4(COL11A1):c.1792-10_1792-8del rs2101851346
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.1945-296G>T rs116296541
NM_001854.4(COL11A1):c.1945-43dup rs370445089
NM_001854.4(COL11A1):c.1945-7C>A rs201424786
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2143-263del rs71592254
NM_001854.4(COL11A1):c.2197-10C>T rs1057521170
NM_001854.4(COL11A1):c.2296-19C>T rs776330050
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.2502+271G>A rs115389602
NM_001854.4(COL11A1):c.2556+135_2556+136del rs146402276
NM_001854.4(COL11A1):c.2556+332A>G rs150296583
NM_001854.4(COL11A1):c.2557-8T>C rs572637910
NM_001854.4(COL11A1):c.2656-4G>T rs1553224423
NM_001854.4(COL11A1):c.2724C>T (p.Gly908=) rs201972285
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=) rs1553224335
NM_001854.4(COL11A1):c.274+194_274+198del rs141045560
NM_001854.4(COL11A1):c.274+5A>G rs1571238473
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.3168+9G>A rs1553218164
NM_001854.4(COL11A1):c.3169-13T>C rs182777459
NM_001854.4(COL11A1):c.3219A>G (p.Leu1073=) rs759784635
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=) rs1553210866
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=) rs1553208812
NM_001854.4(COL11A1):c.3654+91_3654+92del rs34112708
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3816+190C>G rs114612888
NM_001854.4(COL11A1):c.3816+94G>A rs74108056
NM_001854.4(COL11A1):c.3925-10G>T rs773007335
NM_001854.4(COL11A1):c.3979-10C>T rs1553200898
NM_001854.4(COL11A1):c.4032+116del rs148757066
NM_001854.4(COL11A1):c.4140+10A>G rs187171126
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4356+220G>T rs186749898
NM_001854.4(COL11A1):c.4357-314_4357-310del rs201893127
NM_001854.4(COL11A1):c.4464+46CA[17] rs113226085
NM_001854.4(COL11A1):c.4972-263G>T rs112098344
NM_001854.4(COL11A1):c.5275-178A>C rs116234463
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.651+14C>T rs1553252290
NM_001854.4(COL11A1):c.652-17T>G rs555770298
NM_001854.4(COL11A1):c.652-6_652-5insTTC rs749687230
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.81C>T (p.Leu27=) rs1027288806
NM_001854.4(COL11A1):c.828A>T (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.991-14del rs768258098

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