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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1222-2A>G	rs2136577259
NM_001844.5(COL2A1):c.1680+1G>A	rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.2751del (p.Gly918fs)	rs2136528572
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)	rs121912866
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)	rs121912873
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)	rs2136508504
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)	rs121912869
NM_001844.5(COL2A1):c.709-2A>G	rs1592232116

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