ClinVar Miner

List of variants in gene COL2A1 reported as likely benign for not specified

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Total variants: 55
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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.2574C>T (p.Gly858=) rs141423593 0.00278
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.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.655-17C>T rs372454816 0.00024
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.1941+14C>T rs201963693 0.00011
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.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.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.1649G>T (p.Arg550Leu) rs186233557
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.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.3166-8C>T rs1555165207
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

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