ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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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