ClinVar Miner

List of variants in gene COL2A1 reported as likely benign by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
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.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.762+20C>A rs199807767 0.00026
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) rs376722458 0.00004
NM_001844.5(COL2A1):c.969+13A>G rs752733598 0.00004
NM_001844.5(COL2A1):c.2194-10C>T rs779541449 0.00003
NM_001844.5(COL2A1):c.255C>T (p.Cys85=) rs1555169484
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=) rs377079894
NM_001844.5(COL2A1):c.4149G>T (p.Thr1383=) rs750227063

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