ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) rs1231988113
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.3436-1G>A rs2136516942
NM_001844.5(COL2A1):c.3484_3485del (p.Gly1161_Pro1162insTer)

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