ClinVar Miner

List of variants in gene COL2A1 studied for not specified

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Gene type:
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Total variants: 128
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HGVS dbSNP gnomAD frequency
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.85+18C>G rs3803184 0.75547
NM_001844.5(COL2A1):c.1888-47T>C rs1635550 0.74634
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
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.762+15G>A rs10875716 0.25696
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.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
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.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.1888-24C>A rs41263845 0.05181
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
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.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.3597+62C>T rs73297147 0.02515
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.*4C>T rs41272773 0.02262
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
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.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.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.2831C>T (p.Pro944Leu) rs140368756 0.00090
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.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.762+13G>A rs147698746 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001844.5(COL2A1):c.3274-18C>T rs370482993 0.00026
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
NM_001844.5(COL2A1):c.655-17C>T rs372454816 0.00024
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001844.5(COL2A1):c.816+13G>A rs149757685 0.00016
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.1941+14C>T rs201963693 0.00011
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001844.5(COL2A1):c.871-4C>G rs547809613 0.00006
NM_001844.5(COL2A1):c.2356-5C>T rs41263863 0.00004
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=) rs775834995 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.3735C>T (p.Ala1245=) rs752469047 0.00004
NM_001844.5(COL2A1):c.870+12G>A rs373679402 0.00004
NM_001844.5(COL2A1):c.2409+9C>T rs370390239 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_001844.5(COL2A1):c.763-7C>A rs762591076 0.00003
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=) rs1441776862 0.00002
NM_001844.5(COL2A1):c.1122+4C>T rs1041494793 0.00001
NM_001844.5(COL2A1):c.1267-19C>A rs1351301710 0.00001
NM_001844.5(COL2A1):c.1365+12A>G rs1555167401 0.00001
NM_001844.5(COL2A1):c.2193+13G>A rs867065694 0.00001
NM_001844.5(COL2A1):c.2355+15G>A rs746660994 0.00001
NM_001844.5(COL2A1):c.293-17T>C rs368198635 0.00001
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) rs200112269 0.00001
NM_001844.5(COL2A1):c.3274-17G>A rs376108759 0.00001
NM_001844.5(COL2A1):c.3621C>T (p.Pro1207=) rs749799630 0.00001
NM_001844.5(COL2A1):c.3927C>T (p.Asp1309=) rs774100575 0.00001
NM_001844.5(COL2A1):c.-41_-40delinsTT rs1555170134
NM_001844.5(COL2A1):c.1107T>A (p.Gly369=) rs1555167787
NM_001844.5(COL2A1):c.1123-35TTC[2] rs760530147
NM_001844.5(COL2A1):c.1365+19C>A
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) rs1555167372
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala) rs1592214400
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.2376C>A (p.Gly792=) rs886038490
NM_001844.5(COL2A1):c.2484G>A (p.Gly828=) rs1793940
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2895+20C>T rs1555165468
NM_001844.5(COL2A1):c.309+20T>A rs368766858
NM_001844.5(COL2A1):c.310-17A>G rs561118584
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) rs1555165237
NM_001844.5(COL2A1):c.3166-8C>T rs1555165207
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001844.5(COL2A1):c.3490-18G>A rs778292426
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3591C>T (p.Gly1197=) rs1793950
NM_001844.5(COL2A1):c.3597+17del rs758237369
NM_001844.5(COL2A1):c.970-6T>C

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