ClinVar Miner

List of variants in gene COL2A1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.398C>A (p.Pro133His) rs201234519 0.00061
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) rs200882049 0.00031
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00012
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) rs371974287 0.00011
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp) rs374082762 0.00010
NM_001844.5(COL2A1):c.86-5T>A rs753142339 0.00010
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) rs765855138 0.00009
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) rs144572461 0.00008
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) rs201675352 0.00008
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) rs770482348 0.00007
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) rs371226850 0.00007
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) rs376641474 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=) rs750227063 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr) rs762355724 0.00004
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) rs1306517572 0.00004
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) rs769590506 0.00004
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala) rs201192882 0.00004
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) rs200621622 0.00004
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00004
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp) rs372264296 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) rs781062223 0.00003
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) rs201963052 0.00003
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) rs374450416 0.00003
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) rs746108926 0.00003
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) rs765231668 0.00002
NM_001844.5(COL2A1):c.1067C>T (p.Pro356Leu) rs184529965 0.00002
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His) rs201953356 0.00002
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His) rs766574999 0.00002
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn) rs976006680 0.00002
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser) rs747852608 0.00002
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) rs759822181 0.00002
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg) rs764210489 0.00002
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) rs886626700 0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) rs762357071 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) rs745349011 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) rs200549186 0.00002
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) rs557340983 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) rs945234297 0.00001
NM_001844.5(COL2A1):c.1544G>A (p.Arg515His) rs1326204674 0.00001
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp) rs370407502 0.00001
NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu) rs781636320 0.00001
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.2260G>A (p.Glu754Lys) rs1064796856 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly) rs767686686 0.00001
NM_001844.5(COL2A1):c.2404G>A (p.Glu802Lys) rs148985854 0.00001
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) rs770043048 0.00001
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) rs147760401 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) rs772889503 0.00001
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met) rs770907704 0.00001
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) rs748459670 0.00001
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) rs201956851 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) rs978657987 0.00001
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) rs753709490 0.00001
NM_001844.5(COL2A1):c.3287C>T (p.Pro1096Leu) rs377708131 0.00001
NM_001844.5(COL2A1):c.3376G>A (p.Glu1126Lys) rs762592219 0.00001
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala) rs779950053 0.00001
NM_001844.5(COL2A1):c.3637C>A (p.Pro1213Thr) rs886626700 0.00001
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly) rs751251798 0.00001
NM_001844.5(COL2A1):c.3687A>T (p.Arg1229Ser) rs1241940269 0.00001
NM_001844.5(COL2A1):c.3814C>T (p.Pro1272Ser) rs1226449887 0.00001
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) rs778838205 0.00001
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) rs375448469 0.00001
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) rs1555164561 0.00001
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) rs763777663 0.00001
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) rs775279845 0.00001
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) rs1284508374 0.00001
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) rs759583931 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) rs1181216326 0.00001
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) rs777416478 0.00001
NM_001844.5(COL2A1):c.547A>G (p.Met183Val) rs1939974978 0.00001
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr) rs1012776131 0.00001
NM_001844.5(COL2A1):c.787G>A (p.Ala263Thr) rs1939852622 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001844.5(COL2A1):c.-5G>A
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1031G>A (p.Arg344Gln) rs1315554899
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) rs781554389
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) rs1045330263
NM_001844.5(COL2A1):c.121T>C (p.Tyr41His)
NM_001844.5(COL2A1):c.1262C>G (p.Ser421Cys)
NM_001844.5(COL2A1):c.1283C>G (p.Ala428Gly) rs1939466968
NM_001844.5(COL2A1):c.1310G>A (p.Arg437Gln)
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
NM_001844.5(COL2A1):c.1527+4A>C rs2136570708
NM_001844.5(COL2A1):c.1528-10G>A rs1939380163
NM_001844.5(COL2A1):c.1597C>A (p.Arg533=) rs1085307608
NM_001844.5(COL2A1):c.160A>T (p.Ile54Phe) rs1940157670
NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys) rs1555167091
NM_001844.5(COL2A1):c.1679G>A (p.Arg560Gln) rs1186241291
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.1958G>A (p.Arg653Gln) rs1131691824
NM_001844.5(COL2A1):c.2047C>A (p.Gln683Lys) rs1003758989
NM_001844.5(COL2A1):c.2071G>T (p.Ala691Ser)
NM_001844.5(COL2A1):c.2080C>T (p.Leu694Phe)
NM_001844.5(COL2A1):c.2126C>G (p.Ser709Cys) rs771198337
NM_001844.5(COL2A1):c.2281G>T (p.Ala761Ser)
NM_001844.5(COL2A1):c.2296G>A (p.Asp766Asn)
NM_001844.5(COL2A1):c.2377C>T (p.Pro793Ser)
NM_001844.5(COL2A1):c.2380C>T (p.Pro794Ser) rs1019915024
NM_001844.5(COL2A1):c.2406G>T (p.Glu802Asp) rs2136544523
NM_001844.5(COL2A1):c.2440A>T (p.Ser814Cys)
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys) rs1345434851
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) rs745794356
NM_001844.5(COL2A1):c.2552A>C (p.Gln851Pro) rs1057524266
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.2891C>T (p.Pro964Leu)
NM_001844.5(COL2A1):c.2939G>A (p.Arg980Lys)
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr) rs1457365714
NM_001844.5(COL2A1):c.2946C>G (p.Ile982Met) rs555904044
NM_001844.5(COL2A1):c.3003+6T>A
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3274-9_3274-6del rs1555165173
NM_001844.5(COL2A1):c.3286C>T (p.Pro1096Ser) rs761070916
NM_001844.5(COL2A1):c.3305C>T (p.Pro1102Leu) rs772478856
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) rs374036874
NM_001844.5(COL2A1):c.3349G>C (p.Asp1117His)
NM_001844.5(COL2A1):c.3358G>A (p.Glu1120Lys) rs1170064048
NM_001844.5(COL2A1):c.3378G>C (p.Glu1126Asp) rs1238436732
NM_001844.5(COL2A1):c.342+3_342+6dup rs2136629152
NM_001844.5(COL2A1):c.342+5G>A rs2136629166
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001844.5(COL2A1):c.3566C>A (p.Pro1189His) rs755010259
NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys) rs1338267090
NM_001844.5(COL2A1):c.3597+6T>C rs2136514015
NM_001844.5(COL2A1):c.35T>C (p.Leu12Pro) rs2136652710
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp) rs1169999705
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu) rs142168567
NM_001844.5(COL2A1):c.3997A>C (p.Lys1333Gln)
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
NM_001844.5(COL2A1):c.4006T>C (p.Trp1336Arg)
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) rs927945133
NM_001844.5(COL2A1):c.4055C>T (p.Thr1352Ile) rs2136508104
NM_001844.5(COL2A1):c.4058T>C (p.Ile1353Thr)
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) rs200621622
NM_001844.5(COL2A1):c.4073A>G (p.His1358Arg)
NM_001844.5(COL2A1):c.4075-3C>G rs757931927
NM_001844.5(COL2A1):c.4078A>G (p.Ser1360Gly) rs2136506426
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4177T>G (p.Cys1393Gly) rs2136505545
NM_001844.5(COL2A1):c.4228G>A (p.Ala1410Thr) rs1057524467
NM_001844.5(COL2A1):c.4318A>G (p.Lys1440Glu) rs2136502727
NM_001844.5(COL2A1):c.4343C>T (p.Thr1448Ile)
NM_001844.5(COL2A1):c.4356C>T (p.Tyr1452=) rs2136502370
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) rs2136626415
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) rs770027510
NM_001844.5(COL2A1):c.511_512delinsCT (p.Gly171Leu) rs1555169086
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.622C>T (p.Pro208Ser)
NM_001844.5(COL2A1):c.770C>G (p.Ala257Gly)
NM_001844.5(COL2A1):c.910G>T (p.Ala304Ser) rs984944183
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val) rs2136607793

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.