List of variants reported as uncertain significance 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile)	rs368583168	0.00005
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His)	rs1417502139	0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)	rs772889503	0.00001
NM_001844.5(COL2A1):c.725G>A (p.Arg242His)	rs1023703904	0.00001
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)	rs794727202
NM_001844.5(COL2A1):c.1693C>G (p.Arg565Gly)
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)	rs756125516
NM_001844.5(COL2A1):c.4168A>C (p.Thr1390Pro)
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val)	rs113238468

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