List of variants studied for Osteogenesis imperfecta type I by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	rs113950465	0.00041
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys)	rs1341595487	0.00003
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	rs66664580	0.00001
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)	rs797045033
NM_000088.4(COL1A1):c.3100-6C>A
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)	rs72656330
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs)	rs2144537122
NM_000088.4(COL1A1):c.370-2A>T
NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs)
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)	rs1907723511
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser)	rs72656376
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp)	rs1584318648

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