ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.3436-3C>A

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