ClinVar Miner

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

Included ClinVar conditions (12):

Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)	rs772929903	0.00005
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	rs754984293	0.00001
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	rs761672800
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347

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