ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta

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Total variants: 37
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HGVS dbSNP
NM_000088.3(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.3(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1657delA (p.Thr553Leufs) rs193922141
NM_000088.3(COL1A1):c.1812delT (p.Gly605Alafs) rs193922143
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.2062C>T (p.Gln688Ter) rs193922144
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2398-1G>C rs193922147
NM_000088.3(COL1A1):c.2418delT (p.Gly809Alafs) rs193922148
NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) rs193922149
NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) rs193922150
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.3(COL1A1):c.2901_2902delAG (p.Gly968Argfs) rs1555572406
NM_000088.3(COL1A1):c.299_300delAG (p.Glu100Valfs) rs193922154
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val)
NM_000088.3(COL1A1):c.370-2A>G rs193922155
NM_000088.3(COL1A1):c.4339delG (p.Val1447Leufs)
NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.3(COL1A1):c.579delT (p.Gly194Valfs) rs72667023
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000088.3(COL1A1):c.887G>C (p.Gly296Ala)
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1873G>A (p.Gly625Ser) rs193922162
NM_000089.3(COL1A2):c.1991G>A (p.Gly664Asp) rs72658154
NM_000089.3(COL1A2):c.1999G>T (p.Gly667Cys) rs1554397369
NM_000089.3(COL1A2):c.2657G>T (p.Gly886Val)
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.3(COL1A2):c.3106-2delA rs193922166
NM_000089.3(COL1A2):c.3284delC (p.Pro1095Leufs) rs193922167
NM_000089.3(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.3(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.3(COL1A2):c.848_850delGTG (p.Gly283del) rs193922175

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