ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic

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Gene type:
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Total variants: 109
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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) rs72645367
NM_000088.3(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.3(COL1A1):c.1134del (p.Ala379fs) rs1598297227
NM_000088.3(COL1A1):c.1155+3_1155+6del 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) rs1567760604
NM_000088.3(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
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.1547del (p.Pro516fs) rs1555573734
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1635_1643del (p.543_545SPG[1]) rs1064796341
NM_000088.3(COL1A1):c.1657del (p.Thr553fs) rs193922141
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.3(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.3(COL1A1):c.2049_2050del (p.Glu684fs) 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.2418del (p.Gly809fs) rs193922148
NM_000088.3(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.3(COL1A1):c.256del (p.Val86fs) rs1567764772
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) rs1567755602
NM_000088.3(COL1A1):c.2668-11T>G rs786205505
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
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.2897_2898AG[2] (p.Gly968fs) 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.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.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.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.3(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.3(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.3(COL1A1):c.3425G>T (p.Gly1142Val) rs1567753448
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
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.4339del (p.Val1447fs) rs1567751388
NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) rs193922157
NM_000088.3(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.679G>A (p.Gly227Arg) rs1567763007
NM_000088.3(COL1A1):c.733G>T (p.Gly245Trp) rs1598299275
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
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) rs1567761800
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_000088.4(COL1A1):c.1037del (p.Pro346fs) rs1598297682
NM_000088.4(COL1A1):c.1044del (p.Val349fs) rs1598297666
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala)
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala) rs1598296202
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
NM_000088.4(COL1A1):c.1884del (p.Gly629fs) rs1598293710
NM_000088.4(COL1A1):c.2048G>A (p.Gly683Asp) rs1598292524
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala)
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala)
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser)
NM_000088.4(COL1A1):c.2769_2777TCCCCCTGG[1] (p.925_927PGP[1]) rs1555572458
NM_000088.4(COL1A1):c.2830-3A>G
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn)
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala)
NM_000088.4(COL1A1):c.677del (p.Pro226fs) rs1598299754

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