ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP
NC_000017.11:g.(?_50185482)_(50200388_?)dup
NC_000017.11:g.(?_50187464)_(50201533_?)dup
NC_000017.11:g.(?_50187464)_(50203629_?)dup
NM_000088.3(COL1A1):c.*1007_*1008delCT rs886053144
NM_000088.3(COL1A1):c.*1026_*1028delTGT rs751268781
NM_000088.3(COL1A1):c.*1027delG rs878912123
NM_000088.3(COL1A1):c.*1028_*1029delTG rs878983048
NM_000088.3(COL1A1):c.*1029_*1031delGGA rs886053143
NM_000088.3(COL1A1):c.*1030_*1031delGA rs886053142
NM_000088.3(COL1A1):c.*1045delA rs886053141
NM_000088.3(COL1A1):c.*1087C>T rs557843360
NM_000088.3(COL1A1):c.*1165C>G rs149419718
NM_000088.3(COL1A1):c.*1205C>G rs551536386
NM_000088.3(COL1A1):c.*1324A>G rs886053140
NM_000088.3(COL1A1):c.*1384_*1387delATGT rs886053139
NM_000088.3(COL1A1):c.*194G>A rs886053158
NM_000088.3(COL1A1):c.*202A>G rs564917505
NM_000088.3(COL1A1):c.*20G>C rs199806909
NM_000088.3(COL1A1):c.*215delT rs886053157
NM_000088.3(COL1A1):c.*21G>C rs201085309
NM_000088.3(COL1A1):c.*242_*244dupAAA rs56302025
NM_000088.3(COL1A1):c.*243_*244dupAA rs56302025
NM_000088.3(COL1A1):c.*245_*246dupGA rs886053155
NM_000088.3(COL1A1):c.*245delG rs886053156
NM_000088.3(COL1A1):c.*251dupA rs886053154
NM_000088.3(COL1A1):c.*255dupA rs886053153
NM_000088.3(COL1A1):c.*257_*258dupAA rs886053152
NM_000088.3(COL1A1):c.*258dupA rs886053152
NM_000088.3(COL1A1):c.*259_*260insAT rs886053151
NM_000088.3(COL1A1):c.*378C>G rs148131473
NM_000088.3(COL1A1):c.*437A>C rs886053150
NM_000088.3(COL1A1):c.*623G>A rs886053149
NM_000088.3(COL1A1):c.*631G>A rs569577942
NM_000088.3(COL1A1):c.*682C>T rs77720683
NM_000088.3(COL1A1):c.*714C>T rs567392981
NM_000088.3(COL1A1):c.*733G>A rs886053148
NM_000088.3(COL1A1):c.*795C>T rs886053147
NM_000088.3(COL1A1):c.*815A>G rs886053146
NM_000088.3(COL1A1):c.*981G>C rs574167621
NM_000088.3(COL1A1):c.*998_*999delGA rs886053145
NM_000088.3(COL1A1):c.-115G>A rs886053164
NM_000088.3(COL1A1):c.-23G>A rs200689194
NM_000088.3(COL1A1):c.-66G>A rs565562045
NM_000088.3(COL1A1):c.-78_-77delGCinsAA rs886053163
NM_000088.3(COL1A1):c.-98G>C rs574683904
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.103+5G>A rs1555575835
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1057-3C>G rs1555574180
NM_000088.3(COL1A1):c.1062A>T (p.Glu354Asp)
NM_000088.3(COL1A1):c.1200+5G>A
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1299C>T (p.Ser433=)
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.3(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754
NM_000088.3(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229
NM_000088.3(COL1A1):c.1669-10C>A rs886053162
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1693C>A (p.Pro565Thr)
NM_000088.3(COL1A1):c.1767+3_1767+6delGAGT rs886042301
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1876-8C>T rs1329959391
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436
NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.3(COL1A1):c.1929+4A>C rs376244140
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451
NM_000088.3(COL1A1):c.2053C>T (p.Arg685Cys)
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2143C>T (p.Pro715Ser) rs886043618
NM_000088.3(COL1A1):c.2180A>C (p.Gln727Pro) rs749032265
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2197C>T (p.Arg733Cys)
NM_000088.3(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.3(COL1A1):c.2216C>T (p.Pro739Leu)
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2283C>T (p.Gly761=)
NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) rs144820445
NM_000088.3(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys) rs753683126
NM_000088.3(COL1A1):c.2387G>A (p.Arg796His)
NM_000088.3(COL1A1):c.2405G>A (p.Arg802His)
NM_000088.3(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.3(COL1A1):c.2449C>A (p.Pro817Thr)
NM_000088.3(COL1A1):c.2452-23delC rs146899953
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.3(COL1A1):c.2535A>C (p.Gly845=) rs886043649
NM_000088.3(COL1A1):c.2539G>A (p.Ala847Thr) rs369455732
NM_000088.3(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.3(COL1A1):c.2593C>T (p.Arg865Cys) rs1555572582
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520
NM_000088.3(COL1A1):c.2614-8C>T rs886042649
NM_000088.3(COL1A1):c.2715C>T (p.Gly905=) rs779337831
NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302
NM_000088.3(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.3(COL1A1):c.2778_2786dup (p.Pro930_Ala931insProGlyPro) rs1555572458
NM_000088.3(COL1A1):c.277C>A (p.Pro93Thr) rs886042456
NM_000088.3(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.3(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser)
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.298+6G>T
NM_000088.3(COL1A1):c.299-9G>T rs373041336
NM_000088.3(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3099+7T>G rs201682029
NM_000088.3(COL1A1):c.3100-6C>T rs377123276
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3207+8G>T rs866785621
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3251G>A (p.Arg1084His) rs746341018
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307
NM_000088.3(COL1A1):c.3300C>T (p.Gly1100=)
NM_000088.3(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.3(COL1A1):c.333+3A>C rs1555575205
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3369+5G>C rs1555572075
NM_000088.3(COL1A1):c.3369+9G>T rs1009435359
NM_000088.3(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340
NM_000088.3(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
NM_000088.3(COL1A1):c.3578G>A (p.Ser1193Asn)
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.361G>T (p.Gly121Cys) rs904057644
NM_000088.3(COL1A1):c.3630C>T (p.His1210=) rs745320719
NM_000088.3(COL1A1):c.3680G>A (p.Arg1227His) rs543809032
NM_000088.3(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.3(COL1A1):c.3761A>C (p.Asn1254Thr) rs766709517
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3778C>T (p.Arg1260Cys) rs1555571800
NM_000088.3(COL1A1):c.3815-12G>T rs201066018
NM_000088.3(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681
NM_000088.3(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683
NM_000088.3(COL1A1):c.3895T>A (p.Cys1299Ser)
NM_000088.3(COL1A1):c.3906C>T (p.Pro1302=) rs188887858
NM_000088.3(COL1A1):c.3923C>A (p.Ala1308Asp) rs1370247898
NM_000088.3(COL1A1):c.3944G>T (p.Ser1315Ile)
NM_000088.3(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.3(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425
NM_000088.3(COL1A1):c.3994G>A (p.Asp1332Asn)
NM_000088.3(COL1A1):c.4005+5G>A rs778417218
NM_000088.3(COL1A1):c.4006-9C>T rs193922156
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4058C>A (p.Thr1353Asn)
NM_000088.3(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.3(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.3(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.419_420delTTinsCC (p.Leu140Pro) rs1555575068
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4248G>A (p.Thr1416=)
NM_000088.3(COL1A1):c.424G>A (p.Gly142Arg)
NM_000088.3(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.4369G>A (p.Asp1457Asn)
NM_000088.3(COL1A1):c.436C>A (p.Pro146Thr)
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.438_446delCCCCGGACC (p.Pro152_Gly154del)
NM_000088.3(COL1A1):c.471+5G>T rs1555575015
NM_000088.3(COL1A1):c.472-4C>G
NM_000088.3(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.543+10C>T
NM_000088.3(COL1A1):c.543+4A>G rs1555574855
NM_000088.3(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) rs763409550
NM_000088.3(COL1A1):c.655C>T (p.Pro219Ser)
NM_000088.3(COL1A1):c.696+6T>C rs747108049
NM_000088.3(COL1A1):c.740C>T (p.Pro247Leu) rs199626372
NM_000088.3(COL1A1):c.768C>T (p.Pro256=) rs199891984
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)
NM_000088.3(COL1A1):c.853C>G (p.Pro285Ala)
NM_000088.3(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000088.3(COL1A1):c.865C>T (p.Pro289Ser) rs1057524833
NM_000088.3(COL1A1):c.910C>T (p.Arg304Cys)
NM_000088.3(COL1A1):c.937C>T (p.Pro313Ser)
NM_000088.3(COL1A1):c.957+15C>T rs779096006
NM_000088.3(COL1A1):c.964C>T (p.Arg322Cys) rs777644312

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