ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2194-55T>C	rs3829737	0.43071
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	rs186233557
NM_001844.5(COL2A1):c.2679+69dup	rs11443755

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