ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356

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