List of variants studied for Osteogenesis imperfecta type I by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)	rs72656314	0.00001
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys)	rs72645365
NM_000088.4(COL1A1):c.1299+1G>C	rs66490707
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)	rs72654802
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs)	rs72656352
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	rs72645331

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