ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome type 7A by Institute of Immunology and Genetics Kaiserslautern

Included ClinVar conditions (15):

Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)	rs150401168	0.00006
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	rs750756697	0.00004

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