ClinVar Miner

List of variants in gene COL2A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_001844.5(COL2A1):c.969+6T>C rs139163410 0.00081
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00079
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
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.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
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.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 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.960G>A (p.Pro320=) rs138806868 0.00014
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) rs372734539 0.00012
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.610-8C>T rs369362701 0.00010
NM_001844.5(COL2A1):c.2712C>T (p.Arg904=) rs765332234 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.3969C>T (p.Cys1323=) rs577585827 0.00009
NM_001844.5(COL2A1):c.1056C>T (p.Pro352=) rs528554971 0.00008
NM_001844.5(COL2A1):c.4422G>A (p.Glu1474=) rs369696920 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.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00005
NM_001844.5(COL2A1):c.2356-5C>T rs41263863 0.00004
NM_001844.5(COL2A1):c.2457C>T (p.Gly819=) rs145833071 0.00004
NM_001844.5(COL2A1):c.2961G>A (p.Gly987=) rs372938742 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.3426C>T (p.Pro1142=) rs755031857 0.00004
NM_001844.5(COL2A1):c.816+6C>T rs766892635 0.00004
NM_001844.5(COL2A1):c.1069-16C>T rs760355253 0.00003
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.1743T>C (p.Pro581=) rs755517458 0.00002
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001844.5(COL2A1):c.-2C>A
NM_001844.5(COL2A1):c.1069-15G>A
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1123-35TTC[2] rs760530147
NM_001844.5(COL2A1):c.1419+25G>C
NM_001844.5(COL2A1):c.1527+133G>A
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1735-7C>G
NM_001844.5(COL2A1):c.1854T>C (p.Gly618=)
NM_001844.5(COL2A1):c.1996-3T>C
NM_001844.5(COL2A1):c.2050-6C>T
NM_001844.5(COL2A1):c.2181T>C (p.Thr727=)
NM_001844.5(COL2A1):c.2376C>A (p.Gly792=) rs886038490
NM_001844.5(COL2A1):c.2448T>C (p.Gly816=)
NM_001844.5(COL2A1):c.3003+7G>T
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3504C>A (p.Pro1168=)
NM_001844.5(COL2A1):c.3706C>T (p.Leu1236=) rs769035328
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) rs546672421
NM_001844.5(COL2A1):c.3912A>G (p.Gln1304=)
NM_001844.5(COL2A1):c.4317+10G>A
NM_001844.5(COL2A1):c.516C>T (p.Pro172=)
NM_001844.5(COL2A1):c.763-19TC[5] rs139162796
NM_001844.5(COL2A1):c.86-47C>G
NM_001844.5(COL2A1):c.86-50C>T rs183224734
NM_001844.5(COL2A1):c.969+10G>A

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