ClinVar Miner

List of variants reported as likely benign for Caffey disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):

Infantile cortical hyperostosis
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
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
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; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; 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; 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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.104-441G>T	rs1800012	0.13897
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)	rs116794104	0.00432
NM_000088.4(COL1A1):c.4006-33G>A	rs201920224	0.00190
NM_000088.4(COL1A1):c.588+16G>A	rs191715075	0.00032
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	rs375695940	0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	rs200188855	0.00006
NM_000088.4(COL1A1):c.589-20T>C	rs370564344	0.00006
NM_000088.4(COL1A1):c.1056+12dup	rs766175536

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