ClinVar Miner

List of variants in gene COL9A1 reported as uncertain significance for multiple epiphyseal dysplasia

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	rs143848379	0.00061
NM_001851.6(COL9A1):c.876+2dup	rs672601329	0.00030
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)	rs145698301	0.00025
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val)	rs142539130	0.00019
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)	rs145207010	0.00016
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)	rs199581593	0.00006
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)	rs781246762	0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)	rs757218488	0.00002
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)	rs767229176	0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)	rs578034223	0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)	rs571441243	0.00001
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly)	rs200829297
NM_001851.6(COL9A1):c.2708C>A (p.Pro903Gln)
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)	rs767995228
NM_001851.6(COL9A1):c.976-1G>A

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