ClinVar Miner

List of variants reported as uncertain significance for Stickler syndrome type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)	rs925297712	0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)	rs891008017	0.00001

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