List of variants studied for Osteogenesis imperfecta type I by Mendelics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1984-5C>A	rs66592376	0.00249
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000088.4(COL1A1):c.1875+3G>T	rs138164489	0.00001
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.2452-1G>C	rs72651667
NM_000088.4(COL1A1):c.2915del (p.Phe972fs)	rs1598288967
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)	rs1598288648
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	rs762979302
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	rs72667016
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	rs72667031
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val)	rs72645315
NM_000088.4(COL1A1):c.938del (p.Pro313fs)	rs1598298292
NM_000088.4(COL1A1):c.958-1G>C	rs72645352

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