ClinVar Miner

List of variants in gene COL2A1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.609+251A>G rs1793959 0.93738
NM_001844.5(COL2A1):c.2518-69T>C rs1635554 0.91183
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_001844.5(COL2A1):c.1023+108T>C rs1635534 0.75615
NM_001844.5(COL2A1):c.1023+84C>A rs1793915 0.75584
NM_001844.5(COL2A1):c.85+18C>G rs3803184 0.75547
NM_001844.5(COL2A1):c.969+189T>G rs1793912 0.75283
NM_001844.5(COL2A1):c.969+216A>T rs1793913 0.75258
NM_001844.4(COL2A1):c.-246G>T rs10783226 0.75123
NM_001844.5(COL2A1):c.1888-47T>C rs1635550 0.74634
NM_001844.5(COL2A1):c.292+258G>A rs1635532 0.65201
NM_001844.5(COL2A1):c.293-219T>C rs1793958 0.57157
NM_001844.5(COL2A1):c.762+182T>G rs2276453 0.54925
NM_001844.5(COL2A1):c.762+208G>A rs2248990 0.54904
NM_001844.5(COL2A1):c.292+176C>T rs1793953 0.52389
NM_001844.5(COL2A1):c.1528-108A>G rs7963636 0.49481
NM_001844.5(COL2A1):c.969+184C>G rs1793911 0.49358
NM_001844.5(COL2A1):c.1069-171T>C rs1635537 0.48741
NM_001844.5(COL2A1):c.1527+88T>C rs1635544 0.46977
NM_001844.5(COL2A1):c.1527+158T>G rs1635547 0.46936
NM_001844.5(COL2A1):c.1527+155T>C rs1635546 0.46934
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_001844.5(COL2A1):c.2194-111G>A rs3829736 0.42997
NM_001844.5(COL2A1):c.2302-32T>C rs2276456 0.40500
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_001844.5(COL2A1):c.2301+148C>T rs2276455 0.37544
NM_001844.5(COL2A1):c.2302-22G>A rs2276457 0.37493
NM_001844.5(COL2A1):c.1528-62C>T rs3829734 0.35925
NM_001844.5(COL2A1):c.3112-159C>T rs1793949 0.33271
NM_001844.5(COL2A1):c.2409+84G>C rs1793937 0.30046
NM_001844.5(COL2A1):c.2301+72C>T rs12811832 0.29194
NM_001844.5(COL2A1):c.1024-209C>A rs11168342 0.28847
NM_001844.5(COL2A1):c.2733+113T>C rs12368284 0.27600
NM_001844.5(COL2A1):c.531+334C>T rs7971880 0.26030
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_001844.5(COL2A1):c.1024-226C>T rs11168343 0.25684
NM_001844.5(COL2A1):c.2050-49G>T rs11168338 0.24535
NM_001844.5(COL2A1):c.4317+43C>T rs1635560 0.21843
NM_001844.5(COL2A1):c.531+295G>A rs56037230 0.20336
NM_001844.5(COL2A1):c.970-205T>C rs2071437 0.20253
NM_001844.5(COL2A1):c.709-154G>A rs12423250 0.20226
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.532-177A>T rs2213163 0.20089
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_001844.5(COL2A1):c.531+262G>A rs56959315 0.20082
NM_001844.5(COL2A1):c.762+42del rs3216168 0.20069
NM_001844.5(COL2A1):c.3886+111T>G rs4760608 0.18252
NM_001844.5(COL2A1):c.2517+82A>G rs12300271 0.16102
NM_001844.5(COL2A1):c.2409+121dup rs41263865 0.15711
NM_001844.5(COL2A1):c.708+160G>C rs1793960 0.15520
NM_001844.5(COL2A1):c.2679+222C>A rs1793943 0.14857
NM_001844.5(COL2A1):c.3886+207G>A rs12721428 0.09950
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_001844.5(COL2A1):c.816+105C>T rs55921916 0.08366
NM_001844.5(COL2A1):c.2626-166T>C rs57444859 0.07428
NM_001844.5(COL2A1):c.2626-183A>G rs56387272 0.07423
NM_001844.5(COL2A1):c.2734-248G>A rs73297161 0.07317
NM_001844.5(COL2A1):c.1735-57G>C rs56006800 0.06588
NM_001844.5(COL2A1):c.2356-56G>T rs41263861 0.06078
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_001844.5(COL2A1):c.2302-133C>T rs77813711 0.05573
NM_001844.5(COL2A1):c.2193+57C>T rs55967487 0.05572
NM_001844.5(COL2A1):c.2409+108C>T rs75703301 0.05542
NM_001844.5(COL2A1):c.2355+68G>A rs79896080 0.05540
NM_001844.5(COL2A1):c.1942-116T>C rs10219510 0.05498
NM_001844.5(COL2A1):c.3886+75A>C rs56196515 0.05405
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_001844.5(COL2A1):c.4074+162G>A rs12721426 0.05396
NM_001844.5(COL2A1):c.4318-130del rs139902658 0.05396
NM_001844.5(COL2A1):c.1681-38G>A rs41317929 0.05266
NM_001844.5(COL2A1):c.1735-24T>C rs41317933 0.05260
NM_001844.5(COL2A1):c.4318-91C>T rs61048429 0.05196
NM_001844.5(COL2A1):c.1941+152A>G rs56010633 0.05186
NM_001844.5(COL2A1):c.1888-24C>A rs41263845 0.05181
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1941+114A>G rs55744743 0.05152
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_001844.5(COL2A1):c.3273+58T>C rs41272749 0.05106
NM_001844.5(COL2A1):c.709-141C>G rs55698101 0.05038
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_001844.5(COL2A1):c.2734-269G>A rs75447849 0.04654
NM_001844.5(COL2A1):c.3490-70C>T rs57138989 0.04486
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001844.5(COL2A1):c.3165+43A>G rs41272745 0.02677
NM_001844.5(COL2A1):c.3111+26G>A rs58279970 0.02671
NM_001844.5(COL2A1):c.3111+73A>C rs56265470 0.02670
NM_001844.5(COL2A1):c.3111+114G>A rs57550917 0.02667
NM_001844.5(COL2A1):c.2734-199T>A rs73297159 0.02664
NM_001844.5(COL2A1):c.2733+193C>T rs115291873 0.02639
NM_001844.5(COL2A1):c.2733+209C>T rs116357910 0.02633
NM_001844.5(COL2A1):c.2733+220T>C rs113267873 0.02633
NM_001844.5(COL2A1):c.2733+197A>C rs74086449 0.02632
NM_001844.5(COL2A1):c.2733+239G>C rs73297163 0.02629
NM_001844.5(COL2A1):c.2680-132A>C rs58431786 0.02612
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.2680-164A>G rs41272035 0.02602
NM_001844.5(COL2A1):c.2626-94C>T rs58783688 0.02598
NM_001844.5(COL2A1):c.3597+62C>T rs73297147 0.02515
NM_001844.5(COL2A1):c.3436-73T>C rs41272761 0.02513
NM_001844.5(COL2A1):c.3490-152A>T rs74088779 0.02511
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
NM_001844.5(COL2A1):c.2464-181T>A rs58559329 0.02465
NM_001844.5(COL2A1):c.3328-89T>G rs41272757 0.02456
NM_001844.5(COL2A1):c.3274-73A>G rs41272751 0.02447
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001844.5(COL2A1):c.3886+213C>T rs56932369 0.02275
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
NM_001844.5(COL2A1):c.2734-99C>T rs115194627 0.02138
NM_001844.5(COL2A1):c.1068+51G>A rs41317907 0.02135
NM_001844.5(COL2A1):c.2518-91C>T rs41263867 0.02110
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_001844.5(COL2A1):c.375+46G>A rs77680085 0.01915
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001844.5(COL2A1):c.1735-43G>A rs41317931 0.01789
NM_001844.5(COL2A1):c.1024-221C>A rs148257083 0.01729
NM_001844.5(COL2A1):c.816+57C>T rs116115813 0.01657
NM_001844.5(COL2A1):c.85+96C>G rs76609872 0.01643
NM_001844.5(COL2A1):c.2194-30C>T rs41263855 0.01633
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.1680+17C>T rs115270781 0.01302
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.85+77G>C rs190907971 0.00738
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_001844.5(COL2A1):c.2193+32G>A rs3829735 0.00682
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_001844.5(COL2A1):c.3598-19T>G rs76104937 0.00473
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001844.5(COL2A1):c.1221+20G>C rs41317913 0.00432
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) rs41272771 0.00357
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_001844.5(COL2A1):c.610-34T>C rs41317889 0.00169
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_001844.5(COL2A1):c.709-20C>T rs535509546 0.00046
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.3003+20C>T rs571017845 0.00031
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) rs200882049 0.00031
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr) rs143363942 0.00026
NM_001844.5(COL2A1):c.528T>A (p.Gly176=) rs567132968 0.00025
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.1353G>A (p.Pro451=) rs560149744 0.00012
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=) rs373352689 0.00012
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00012
NM_001844.5(COL2A1):c.526G>A (p.Gly176Ser) rs201003836 0.00012
NM_001844.5(COL2A1):c.1941+14C>T rs201963693 0.00011
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) rs371974287 0.00011
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.2464-19A>C rs200042189 0.00009
NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=) rs752970787 0.00009
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) rs144572461 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
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.1420-13T>C rs781084068 0.00004
NM_001844.5(COL2A1):c.1670C>T (p.Pro557Leu) rs866981761 0.00004
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) rs1306517572 0.00004
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) rs200621622 0.00004
NM_001844.5(COL2A1):c.1400A>G (p.Gln467Arg) rs765413831 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2435C>T (p.Ala812Val) rs767149878 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) rs1400762548 0.00003
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) rs371445823 0.00003
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.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys) rs144505311 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.1342C>T (p.Pro448Ser) rs923610032 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser) rs763003390 0.00001
NM_001844.5(COL2A1):c.2410-19C>A rs755457830 0.00001
NM_001844.5(COL2A1):c.2458G>A (p.Ala820Thr) rs371550944 0.00001
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala) rs1252498034 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001844.5(COL2A1):c.2944A>T (p.Ile982Phe) rs1239633408 0.00001
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser) rs771399441 0.00001
NM_001844.5(COL2A1):c.415G>A (p.Asp139Asn) rs1402865784 0.00001
NM_001844.5(COL2A1):c.4256T>C (p.Val1419Ala) rs1308668773 0.00001
NM_001844.5(COL2A1):c.4357C>T (p.Arg1453Trp) rs776306214 0.00001
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) rs777416478 0.00001
NM_001844.5(COL2A1):c.1024-202del rs35920899
NM_001844.5(COL2A1):c.1123-264C>G rs10875715
NM_001844.5(COL2A1):c.1227C>A (p.Asn409Lys)
NM_001844.5(COL2A1):c.1420-114dup rs34642877
NM_001844.5(COL2A1):c.1420-13dup
NM_001844.5(COL2A1):c.1536C>T (p.Pro512=)
NM_001844.5(COL2A1):c.15G>A (p.Gly5=)
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1829C>A (p.Ala610Asp) rs1293965789
NM_001844.5(COL2A1):c.1888-14del rs2136559359
NM_001844.5(COL2A1):c.1926A>T (p.Gly642=)
NM_001844.5(COL2A1):c.2072C>T (p.Ala691Val)
NM_001844.5(COL2A1):c.2193+101G>T rs11168337
NM_001844.5(COL2A1):c.2194-54dup rs3842680
NM_001844.5(COL2A1):c.2410-79C>A rs79231959
NM_001844.5(COL2A1):c.2464-75A>C rs2276458
NM_001844.5(COL2A1):c.2568G>A (p.Gln856=)
NM_001844.5(COL2A1):c.262A>T (p.Ile88Phe)
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.2734-45_2734-43del rs59984649
NM_001844.5(COL2A1):c.292+258G>C rs1635532
NM_001844.5(COL2A1):c.292+258G>T rs1635532
NM_001844.5(COL2A1):c.292+258del rs371739976
NM_001844.5(COL2A1):c.293-10dup
NM_001844.5(COL2A1):c.3133C>T (p.Pro1045Ser)
NM_001844.5(COL2A1):c.3165+80G>A
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152
NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG rs145571589
NM_001844.5(COL2A1):c.3490-15CT[4] rs780110289
NM_001844.5(COL2A1):c.3513C>A (p.Pro1171=)
NM_001844.5(COL2A1):c.3540C>A (p.Ile1180=)
NM_001844.5(COL2A1):c.3551T>C (p.Ile1184Thr)
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=) rs536885536
NM_001844.5(COL2A1):c.3696C>T (p.Gly1232=)
NM_001844.5(COL2A1):c.3707T>C (p.Leu1236Pro)
NM_001844.5(COL2A1):c.3715A>G (p.Met1239Val) rs200136879
NM_001844.5(COL2A1):c.3809G>A (p.Arg1270His)
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001844.5(COL2A1):c.3887-6del rs572863485
NM_001844.5(COL2A1):c.4074+50_4074+51del rs41272763
NM_001844.5(COL2A1):c.4380C>G (p.Leu1460=)
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001844.5(COL2A1):c.4408A>G (p.Ile1470Val)
NM_001844.5(COL2A1):c.490C>T (p.Pro164Ser)
NM_001844.5(COL2A1):c.610-15dup
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001844.5(COL2A1):c.644C>T (p.Ala215Val)
NM_001844.5(COL2A1):c.763-19TC[5] rs139162796
NM_001844.5(COL2A1):c.86-46C>G
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn) rs1291318209

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.