List of variants reported as pathogenic for Stickler syndrome type 1 by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)	rs1025202963
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)	rs1555166218
NM_001844.5(COL2A1):c.3166-1G>A	rs1555165204
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)	rs1555164735

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