ClinVar Miner

List of variants reported as uncertain significance for mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Included ClinVar conditions (6):

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
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 - Sutcliffe 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
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; Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, Stanescu type
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
Achondrogenesis type II; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Platyspondylic dysplasia, Torrance type; Spondyloepimetaphyseal dysplasia, Strudwick type
Namaqualand hip dysplasia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	rs142770543	0.00019
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	rs376772481	0.00009
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	rs781554389	0.00001
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His)	rs1417502139	0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	rs371440147	0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	rs1431778644	0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	rs570320774	0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)	rs772889503	0.00001
NM_001844.5(COL2A1):c.3111+5G>A	rs1429492734	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.2618G>T (p.Gly873Val)	rs886042009

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