ClinVar Miner

List of variants studied for multiple epiphyseal dysplasia by OMIM

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	rs77245812	0.01128
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_001851.6(COL9A1):c.876+2dup	rs672601329	0.00030
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00014
NM_002381.5(MATN3):c.209G>A (p.Arg70His)	rs104893640	0.00012
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	rs377546036	0.00004
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)	rs1085307973	0.00003
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)	rs28939677	0.00003
NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe)	rs1014317450	0.00001
NC_000002.12:g.19998776_20009244dup
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000095.3(COMP):c.2223dup (p.Asn742fs)	rs869320730
NM_000112.4(SLC26A2):c.1565C>T (p.Ser522Phe)	rs1561822760
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)	rs121912882
NM_001852.4(COL9A2):c.186+2T>C	rs1569763139
NM_001852.4(COL9A2):c.186+5G>C	rs1569763108
NM_001852.4(COL9A2):c.186G>C (p.Pro62=)	rs1085307973
NM_001853.4(COL9A3):c.148-2A>T	rs1600786629
NM_001853.4(COL9A3):c.183+5G>A	rs1600786748
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	rs104893637
NM_002381.5(MATN3):c.382G>C (p.Ala128Pro)	rs104893641
NM_002381.5(MATN3):c.581T>A (p.Val194Asp)	rs104893645
NM_198525.3(KIF7):c.3179A>G (p.Asn1060Ser)	rs886039282

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