ClinVar Miner

List of variants in gene COL2A1 reported as uncertain significance for not specified

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) rs200112269 0.00001
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001844.5(COL2A1):c.970-6T>C

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