ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by Laboratory of Functional Genomics, Research Centre for Medical Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC

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