List of variants reported as likely pathogenic for Osteogenesis imperfecta, perinatal lethal by Genomics England Pilot Project, Genomics England

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1200+1del	rs2144576696
NM_000088.4(COL1A1):c.3207+1_3207+2del	rs1064796200
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	rs72645355
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)	rs1114167416
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	rs67525025

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