ClinVar Miner

List of variants studied for Stickler syndrome type 1 by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs) rs2136544726
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.575del (p.Gly192fs)
NM_001844.5(COL2A1):c.610-2A>T

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