List of variants studied for Osteogenesis imperfecta type I by 3billion

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)	rs199510546	0.00001
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)	rs72648330
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	rs67507747
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.4(COL1A1):c.2667+5G>A	rs2509185655
NM_000088.4(COL1A1):c.2991del (p.Gly998fs)	rs886042603
NM_000088.4(COL1A1):c.3215del (p.Ala1072fs)
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr)	rs72656337
NM_000088.4(COL1A1):c.387del (p.Gly130fs)	rs1555575086
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	rs72667016
NM_000088.4(COL1A1):c.579del (p.Gly194fs)	rs72667023
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	rs72667036

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