ClinVar Miner

List of variants in gene COL2A1 reported as benign by Invitae

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Total variants: 129
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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.292+258G>A rs1635532 0.65201
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
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.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.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.3000G>A (p.Pro1000=) rs1793947 0.02436
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.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.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.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.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.528T>A (p.Gly176=) rs567132968 0.00025
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
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.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.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.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.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.293-10dup
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152
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.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.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.874T>A (p.Tyr292Asn) rs1291318209

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