List of variants studied for Osteogenesis imperfecta type I by Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1354-12G>A	rs72648337	0.00001
NM_000088.4(COL1A1):c.104-1G>T	rs1555575456
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	rs72645366
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	rs1907516553
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)	rs72645370
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter)	rs72648343
NM_000088.4(COL1A1):c.148C>T (p.Arg50Ter)	rs1555575425
NM_000088.4(COL1A1):c.1781dup (p.Ala595fs)
NM_000088.4(COL1A1):c.1789G>T (p.Glu597Ter)
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.2037_2038del (p.Gly680fs)
NM_000088.4(COL1A1):c.2343+1G>A	rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.4(COL1A1):c.2668-17_2699del
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)	rs2484725715

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