ClinVar Miner

List of variants in gene COL2A1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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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.532-27T>A rs41317883 0.02397
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.*305G>A rs532700241 0.00516
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.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
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.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
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.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
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.3327+3G>A rs192229438 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.1581+16G>A rs182598943 0.00024
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
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.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001844.5(COL2A1):c.1353G>A (p.Pro451=) rs560149744 0.00012
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) rs372734539 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.550G>A (p.Ala184Thr) rs201817670 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.3047G>A (p.Arg1016Lys) rs146046296 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.2163C>T (p.Leu721=) rs141375467 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.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.3120C>T (p.Pro1040=) rs367982631 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.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 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.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.4264C>T (p.Arg1422Trp) rs754466377 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.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.2410-13T>G rs574507277
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.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.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.541G>T (p.Ala181Ser) rs1939975439
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

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