ClinVar Miner

List of variants reported as pathogenic for combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 by OMIM

Included ClinVar conditions (5):

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
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; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	rs72654799	0.00009
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	rs74315111
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	rs1114167408
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)	rs67828806

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