ClinVar Miner

List of variants in gene COL2A1 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.541G>T (p.Ala181Ser) rs1939975439

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