ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic for Spondyloperipheral dysplasia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys) rs2136587685
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp) rs1939463507
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser) rs1939445848
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) rs886043540
NM_001844.5(COL2A1):c.3436-2A>G rs1592198803
NM_001844.5(COL2A1):c.3887-2A>G rs2136508967

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