ClinVar Miner

List of variants reported as not provided for Ehlers-Danlos syndrome, arthrochalasia type by GenomeConnect - Invitae Patient Insights Network

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1036-3T>C	rs370275593	0.00007
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)	rs72653147
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	rs761672800

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