ClinVar Miner

List of variants reported as likely benign for achondrogenesis type II

Included ClinVar conditions (8):

Achondrogenesis type II
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Czech dysplasia, metatarsal type; 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 - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; 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; Czech dysplasia, metatarsal type; 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; Czech dysplasia, metatarsal type; 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
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1266+7G>A	rs41317915	0.01359
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	rs145704340	0.00654
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	rs35504014	0.00278
NM_001844.5(COL2A1):c.2095-4G>A	rs111570218	0.00089
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	rs41263847	0.00073
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	rs775923357	0.00015
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	rs150951022	0.00006
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	rs139205058	0.00005
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	rs939449148	0.00004
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	rs748658390	0.00001
NM_001844.5(COL2A1):c.2734-18C>T	rs570573455
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu)	rs1592232018

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