ClinVar Miner

List of variants in gene COL2A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
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.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln) rs370821294 0.00013
NM_001844.5(COL2A1):c.2832C>T (p.Pro944=) rs147592023 0.00007
NM_001844.5(COL2A1):c.3588C>T (p.Thr1196=) rs1245257033 0.00004
NM_001844.5(COL2A1):c.276C>T (p.Asp92=) rs748367231 0.00003
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.1527+72G>A
NM_001844.5(COL2A1):c.3165+80G>A
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152
NM_001844.5(COL2A1):c.3642T>C (p.Pro1214=)
NM_001844.5(COL2A1):c.4137C>T (p.Arg1379=) rs2136505936
NM_001844.5(COL2A1):c.4152A>G (p.Glu1384=)
NM_001844.5(COL2A1):c.501C>A (p.Pro167=) rs768549401
NM_001844.5(COL2A1):c.86-50C>T rs183224734

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