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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)	rs867799325
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)	rs2540150852
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)	rs121912897
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)	rs2540111978
NM_001844.5(COL2A1):c.512del (p.Gly171fs)	rs2540180043
NM_001844.5(COL2A1):c.569del (p.Lys190fs)	rs2136622208
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)	rs1131691822
NM_001844.5(COL2A1):c.925-1G>A	rs2540167332

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