ClinVar Miner

List of variants reported as uncertain significance for Caffey disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	rs767525556	0.00013
NM_000088.4(COL1A1):c.3531+4T>C	rs145251615	0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	rs575285203	0.00008
NM_000088.4(COL1A1):c.4005+5G>A	rs778417218	0.00006
NM_000088.4(COL1A1):c.1200+5G>A	rs374322003	0.00005
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	rs146035171	0.00004
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	rs72656307	0.00002
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	rs779846520	0.00001
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr)	rs751299130

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