ClinVar Miner

List of variants studied for Stickler syndrome type 1 by Mendelics

Included ClinVar conditions (9):

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
Stickler syndrome type 1
Stickler syndrome, type I, nonsyndromic ocular

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Minimum conflict level: Report conflict between different conditions
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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2194-55T>C	rs3829737	0.43071
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)	rs1481212897	0.00001
NM_001844.5(COL2A1):c.1420-2A>G	rs794727377
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)	rs2136571080
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)	rs2136571005
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)	rs2136567807
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	rs186233557
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)	rs2136567630
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)	rs1269619781
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)	rs1555166555
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)	rs2136538046
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)	rs1592206729
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)	rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)	rs886041713
NM_001844.5(COL2A1):c.2679+1G>A	rs1592205758
NM_001844.5(COL2A1):c.2679+69dup	rs11443755
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)	rs753342774
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	rs748459670
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	rs886043356
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)	rs2136514646
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)	rs2136505595
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)	rs2136616311
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	rs121912876

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