ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.2625+1del rs2136537220
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087

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