ClinVar Miner

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

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Total variants: 37
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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.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.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001844.5(COL2A1):c.532-27T>A rs41317883 0.02397
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
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.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.2193+32G>A rs3829735 0.00682
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.610-34T>C rs41317889 0.00169
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.3887-6del rs572863485

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