ClinVar Miner

List of variants in gene COL1A1 studied for Osteogenesis imperfecta, recessive perinatal lethal

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Total variants: 32
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HGVS dbSNP
COL1A1, 1-BP INS, 4088T
COL1A1, 9-BP DEL
COL1A1, 9-BP DUP
COL1A1, EX15-16DUP
NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val) rs72648333
NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp) rs72648356
NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg) rs72648363
NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp) rs72651646
NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp) rs72651651
NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val) rs72651653
NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) rs72651657
NM_000088.3(COL1A1):c.2444G>T (p.Gly815Val) rs66929517
NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp) rs72653137
NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys) rs72653143
NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys) rs72653152
NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys) rs72653154
NM_000088.3(COL1A1):c.2939G>T (p.Gly980Val) rs72653166
NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) rs72653172
NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[1] (p.1047_1049APG[2]) rs74315111
NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) rs72654797
NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys) rs72656303
NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser) rs72656306
NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys) rs72656324
NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) rs72656332
NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) rs397514672
NM_000088.3(COL1A1):c.4247del (p.Thr1416fs) rs398122835
NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) rs72645333
NM_000088.3(COL1A1):c.957+5G>A

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