List of variants reported as pathogenic for Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.94035075_94047591dup
NM_000089.4(COL1A2):c.3105+2T>C	rs72659324
NM_000089.4(COL1A2):c.324+4del	rs1791756559
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	rs1114167416
NM_000089.4(COL1A2):c.432+5G>A	rs72656364

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