ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001844.4(COL2A1):c.971delG	rs1555168309
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)	rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A	rs1555166658
NM_001844.5(COL2A1):c.2355+2del	rs1555166295

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