ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by Center of Medical Genetics, Central South University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	rs760390497	0.00003
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884

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