ClinVar Miner

List of variants in gene COL1A1 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (35):

Brittle cornea syndrome 2
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Intestinal pseudoobstruction neuronal chronic idiopathic X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia; Frontometaphyseal dysplasia
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia
Complement component c1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, hydroxylysine-deficient
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome, periodontal type, 2
Ehlers-Danlos syndrome, procollagen proteinase deficient
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta
Ehlers-Danlos syndrome, progeroid type, 2
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 4
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 8
Ehlers-Danlos syndrome, type vii, autosomal recessive
Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Ehlers-Danlos-like syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient
Periventricular nodular heterotopia 1
Periventricular nodular heterotopia 1; Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
Spondyloepimetaphyseal dysplasia with joint laxity; Ehlers-Danlos syndrome, progeroid type, 2

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 17

Download table as spreadsheet

HGVS	dbSNP
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.3(COL1A1):c.1299+1G>A	rs66490707
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr)	rs751299130
NM_000088.3(COL1A1):c.1821+1G>A	rs66555264
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser)	rs1434279534
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)	rs575285203
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala)	rs767525556
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His)	rs146035171
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)	rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	rs72645357

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