ClinVar Miner

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; 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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	rs142770543	0.00019

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