ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta

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Total variants: 52
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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.1657del (p.Thr553fs) rs193922141
NM_000088.3(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) 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.2418del (p.Gly809fs) rs193922148
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) rs193922150
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2897A>G (p.Gln966Arg) rs193922152
NM_000088.3(COL1A1):c.2897_2898AG[2] (p.Gly968fs) rs1555572406
NM_000088.3(COL1A1):c.2984G>C (p.Gly995Ala) rs1598288656
NM_000088.3(COL1A1):c.2993G>C (p.Gly998Ala) rs1598288634
NM_000088.3(COL1A1):c.299_300delAG rs193922154
NM_000088.3(COL1A1):c.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val) rs1567753448
NM_000088.3(COL1A1):c.370-2A>G rs193922155
NM_000088.3(COL1A1):c.4339del (p.Val1447fs) rs1567751388
NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.3(COL1A1):c.733G>T (p.Gly245Trp) rs1598299275
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) rs1567761800
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.2405G>T (p.Gly802Val) rs1562906013
NM_000089.3(COL1A2):c.2657G>T (p.Gly886Val) rs1562906570
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.3(COL1A2):c.3284del (p.Pro1095fs) 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 rs193922175
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp) rs1584319418
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val) rs1584322737
NM_000089.4(COL1A2):c.3106-2del rs193922166
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val) rs1584330959
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly) rs1584316181
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg) rs1584318953
NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp) rs1131692167
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser) rs72656389
NM_052854.4(CREB3L1):c.928_930AAG[2] (p.Lys312del) rs1555222973

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