ClinVar Miner

List of variants studied 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 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His) rs1417502139 0.00001
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser) rs1362360030 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.2771G>A (p.Gly924Glu)
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)
NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)

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