List of variants reported as pathogenic for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	rs1351742344
NM_000088.4(COL1A1):c.2343+1G>A	rs1114167378
NM_000088.4(COL1A1):c.288del (p.Asp97fs)	rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	rs1555571916
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347

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