ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)	rs2136544726
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
NM_001844.5(COL2A1):c.610-2A>T

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