ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Laboratory of Functional Genomics, Research Centre for Medical Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001844.5(COL2A1):c.1802_1833+55del rs2540144358
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1]) rs2540135688
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter) rs2540174635
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC rs2540169004

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