ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by OMIM

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Total variants: 64
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HGVS dbSNP
COL1A1, 1-BP INS, 4088T
COL1A1, 562-BP DEL
COL1A1, 9-BP DEL
COL1A1, 9-BP DUP
COL1A1, EX15-16DUP
COL1A1, EX22DEL
COL1A1, IVS14DS, G-A, +5
COL1A1, IVS26DS, G-A, +1
NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys) rs66721653
NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys) rs72645365
NM_000088.3(COL1A1):c.1299+1G>C
NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val) rs72648333
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
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.1777G>T (p.Gly593Cys) rs66527965
NM_000088.3(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp) rs72651618
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) rs67368147
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.2515G>A (p.Gly839Ser) rs72653131
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.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) rs72653172
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) rs72654797
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
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.3421C>T (p.Arg1141Ter) rs72656314
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.3551G>T (p.Gly1184Val) rs72656331
NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) rs72656332
NM_000088.3(COL1A1):c.3936G>T (p.Trp1312Cys) rs72656343
NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) rs397514672
NM_000088.3(COL1A1):c.4247del (p.Thr1416fs) rs398122835
NM_000088.3(COL1A1):c.4358_4362del rs72656352
NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro) rs72656353
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp) rs67828806
NM_000088.3(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.3(COL1A1):c.642+1G>A
NM_000088.3(COL1A1):c.661G>T (p.Gly221Cys) rs72667037
NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu) rs72645320
NM_000088.3(COL1A1):c.787G>A (p.Gly263Arg) rs72645323
NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) rs72645333
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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