ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) rs865903887
NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg)
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870

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