ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic

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Total variants: 85
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HGVS dbSNP
NC_000017.11:g.(?_50198141)_(50198524_?)del
NM_000088.3(COL1A1):c.1002+2T>A rs786205507
NM_000088.3(COL1A1):c.1003-1G>A rs72645361
NM_000088.3(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.3(COL1A1):c.1021G>T (p.Gly341Cys) rs193922137
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1102G>C (p.Gly368Arg)
NM_000088.3(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.3(COL1A1):c.1155+3_1155+6delAAGT rs72648316
NM_000088.3(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.3(COL1A1):c.1200+2dup rs1555574113
NM_000088.3(COL1A1):c.1235C>G (p.Pro412Arg) rs193922138
NM_000088.3(COL1A1):c.1237G>C (p.Gly413Arg)
NM_000088.3(COL1A1):c.1238G>A (p.Gly413Asp)
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.3(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1516-1G>A rs72648352
NM_000088.3(COL1A1):c.1544G>C (p.Gly515Ala) rs193922140
NM_000088.3(COL1A1):c.1547delC (p.Pro516Leufs) rs1555573734
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1635_1643delCAGCCCTGG (p.Ser546_Gly548del) rs1064796341
NM_000088.3(COL1A1):c.1657delA (p.Thr553Leufs) rs193922141
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1724G>A (p.Gly575Asp)
NM_000088.3(COL1A1):c.1812delT (p.Gly605Alafs) rs193922143
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.2021G>A (p.Gly674Glu)
NM_000088.3(COL1A1):c.2049_2050delCG (p.Glu684Alafs) rs1555573111
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.2354G>A (p.Gly785Asp) rs786205506
NM_000088.3(COL1A1):c.2398-1G>C rs193922147
NM_000088.3(COL1A1):c.2418delT (p.Gly809Alafs) rs193922148
NM_000088.3(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) rs193922149
NM_000088.3(COL1A1):c.256del (p.Val86Serfs)
NM_000088.3(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) rs193922150
NM_000088.3(COL1A1):c.2650G>A (p.Gly884Ser)
NM_000088.3(COL1A1):c.2668-11T>G rs786205505
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.2830-1G>A
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
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.2930G>T (p.Gly977Val) rs886042308
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.299_300delAG (p.Glu100Valfs) rs193922154
NM_000088.3(COL1A1):c.3099+1G>A rs1555572316
NM_000088.3(COL1A1):c.3099+2T>A rs1555572315
NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177
NM_000088.3(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3245delG (p.Gly1082Alafs) rs1555572161
NM_000088.3(COL1A1):c.3389G>A (p.Gly1130Asp)
NM_000088.3(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val)
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3487G>A (p.Gly1163Arg)
NM_000088.3(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.3(COL1A1):c.3622A>T (p.Lys1208Ter) rs786205504
NM_000088.3(COL1A1):c.370-2A>G rs193922155
NM_000088.3(COL1A1):c.388G>T (p.Gly130Cys) rs1555575085
NM_000088.3(COL1A1):c.3893C>A (p.Thr1298Asn) rs1555571755
NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.3(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589
NM_000088.3(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
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.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.679G>A (p.Gly227Arg)
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
NM_000088.3(COL1A1):c.796G>C (p.Gly266Arg) rs1555574493
NM_000088.3(COL1A1):c.805G>A (p.Gly269Ser) rs72645328
NM_000088.3(COL1A1):c.805G>C (p.Gly269Arg) rs72645328
NM_000088.3(COL1A1):c.887G>C (p.Gly296Ala)
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
NM_000088.3:c.2586del

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