List of variants reported as pathogenic for Stickler syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)	rs763259234	0.00002
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup)	rs672601355
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs)	rs672601354
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)	rs1201247953
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del)	rs574365163

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