List of variants reported as pathogenic for Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)	rs1362360030	0.00001
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)	rs121912891	0.00001
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	rs121912880
NM_001844.5(COL2A1):c.1A>G (p.Met1Val)	rs2136652928
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964

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