ClinVar Miner

List of variants studied for achondrogenesis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (17):

Achondrogenesis
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
Achondrogenesis, type IA
Achondrogenesis, type IA; Goldblatt syndrome
Achondrogenesis, type IB
Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia
Acromesomelic dysplasia 2C, Hunter-Thompson type; Brachydactyly type A2; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5
Grebe syndrome
Hypochondrogenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)	rs868417981
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)	rs886044555
NM_001844.5(COL2A1):c.1680+2T>G	rs1565681966
NM_001844.5(COL2A1):c.2814del (p.Gly939fs)	rs1555165494
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)	rs2136526614
NM_001844.5(COL2A1):c.292+2T>A
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	rs121912876

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