ClinVar Miner

List of variants studied for Stickler syndrome, type I, nonsyndromic ocular by Genetics and Molecular Pathology, SA Pathology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)	rs1380248932	0.00001
NM_001844.5(COL2A1):c.1420-1G>A	rs2540149390

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