ClinVar Miner

List of variants reported as pathogenic for Stickler syndrome type 1 by Mendelics

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Total variants: 4
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NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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