ClinVar Miner

List of variants in gene COL9A2 studied for Stickler syndrome

Included ClinVar conditions (22):

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; 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
Autosomal dominant rhegmatogenous retinal detachment
Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, IIa 6
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001852.4(COL9A2):c.1323+18T>G	rs186166446	0.00363
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	rs141556170	0.00111
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)	rs77937237	0.00051
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	rs373264436	0.00025
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	rs201985170	0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)	rs528002132	0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	rs184896618	0.00008
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	rs375476174	0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)	rs565855414	0.00006
NM_001852.4(COL9A2):c.1871-8G>T	rs372902486	0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)	rs201847956	0.00006
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala)	rs1202213496	0.00001
NM_001852.4(COL9A2):c.1242del (p.Gly415fs)	rs756694568
NM_001852.4(COL9A2):c.1485del (p.Gly496fs)	rs761748258
NM_001852.4(COL9A2):c.1506del (p.Asn503fs)	rs1040081238
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	rs781682527
NM_001852.4(COL9A2):c.1604-26CTCC[7]	rs3831927
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser)	rs535212284
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)	rs150687987
NM_001852.4(COL9A2):c.843_846+4del	rs606231376

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