ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)	rs140580674
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)	rs2136539942
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)	rs2136537559

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