ClinVar Miner

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; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874

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