ClinVar Miner

List of variants studied for multiple epiphyseal dysplasia by Mendelics

Included ClinVar conditions (26):

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 IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2
Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder; Stickler syndrome, type 6
Epiphyseal dysplasia, multiple, 6
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Epiphyseal dysplasia, multiple, 7
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 5; Spondyloepimetaphyseal dysplasia, matrilin-3 type; Osteoarthritis susceptibility 2
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia, Beighton type
Short stature; Hearing impairment; Developmental dysplasia of the hip; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro)	rs592121	0.46927
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)	rs751557	0.25404
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	rs2294984	0.12823
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)	rs77706858	0.00348
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	rs76784312	0.00025
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)	rs187943382	0.00001
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	rs2145903160

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