ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.4074+1G>A rs2136507956
NM_001844.5(COL2A1):c.4317+1G>T rs2136504667
NM_001844.5(COL2A1):c.654+4dup rs2136618963

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