ClinVar Miner

List of variants in gene COL1A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.*20G>C rs199806909
NM_000088.3(COL1A1):c.-41C>T rs200106397
NM_000088.3(COL1A1):c.-43C>T rs368832341
NM_000088.3(COL1A1):c.104-1G>T rs1555575456
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1056+12dupC rs766175536
NM_000088.3(COL1A1):c.1076G>A (p.Gly359Glu) rs1085307454
NM_000088.3(COL1A1):c.1127dup (p.Gly377Trpfs) rs72645369
NM_000088.3(COL1A1):c.1155+3_1155+6delAAGT rs72648316
NM_000088.3(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1300-9C>T rs780311548
NM_000088.3(COL1A1):c.1300G>A (p.Gly434Ser) rs1555573969
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter) rs762428889
NM_000088.3(COL1A1):c.1414C>T (p.Arg472Ter) rs72648343
NM_000088.3(COL1A1):c.1461+13G>T rs371161009
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1465G>T (p.Gly489Ter) rs138570309
NM_000088.3(COL1A1):c.148C>T (p.Arg50Ter) rs1555575425
NM_000088.3(COL1A1):c.1515+20G>A rs373728987
NM_000088.3(COL1A1):c.1515+6C>T rs369422507
NM_000088.3(COL1A1):c.1533T>G (p.Arg511=) rs899423835
NM_000088.3(COL1A1):c.1547delC (p.Pro516Leufs) rs1555573734
NM_000088.3(COL1A1):c.1587C>T (p.Pro529=) rs113437353
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1615G>A (p.Gly539Ser) rs1555573699
NM_000088.3(COL1A1):c.1618delC (p.Leu540Terfs) rs1555573696
NM_000088.3(COL1A1):c.162delA (p.Lys54Asnfs) rs1131691607
NM_000088.3(COL1A1):c.1635_1643delCAGCCCTGG (p.Ser546_Gly548del) rs1064796341
NM_000088.3(COL1A1):c.1638C>T (p.Ser546=) rs146450504
NM_000088.3(COL1A1):c.165C>T (p.Pro55=) rs1057523677
NM_000088.3(COL1A1):c.1668+16C>T rs41316659
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1768-18A>C rs767179998
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1785T>A (p.Ala595=) rs780217716
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1812T>C (p.Pro604=) rs151328660
NM_000088.3(COL1A1):c.1815C>T (p.Gly605=) rs370384784
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1822-32delA rs757681237
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1875+5G>C rs886041866
NM_000088.3(COL1A1):c.1875+8T>A rs756572885
NM_000088.3(COL1A1):c.1876-6G>A rs763222869
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.1887C>T (p.Gly629=) rs375695940
NM_000088.3(COL1A1):c.1929+17G>C rs1291997527
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1930-5T>C rs762377921
NM_000088.3(COL1A1):c.1930G>A (p.Gly644Ser) rs1057524547
NM_000088.3(COL1A1):c.197_199delGCAinsTGTTGCC (p.Gly66Valfs) rs886041871
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.1984-7C>G rs376886366
NM_000088.3(COL1A1):c.2049_2050delCG (p.Glu684Alafs) rs1555573111
NM_000088.3(COL1A1):c.2073delT (p.Gly692Valfs) rs72651640
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2119G>A (p.Gly707Ser) rs886041817
NM_000088.3(COL1A1):c.2127+12G>A rs778814970
NM_000088.3(COL1A1):c.2138G>A (p.Gly713Asp) rs1555573040
NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124
NM_000088.3(COL1A1):c.2175C>T (p.Gly725=) rs35017779
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2235+11C>A rs572426023
NM_000088.3(COL1A1):c.2235+11C>G rs572426023
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) rs144820445
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658
NM_000088.3(COL1A1):c.2343+18C>T rs1050837911
NM_000088.3(COL1A1):c.2344-7C>T rs1031284183
NM_000088.3(COL1A1):c.2397+13G>A rs200821764
NM_000088.3(COL1A1):c.2408G>T (p.Gly803Val) rs1555572756
NM_000088.3(COL1A1):c.2466A>G (p.Gln822=) rs551706871
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2484_2510dup (p.Gly836_Asp837insGluProGlyAspAlaGlyAlaLysGly) rs1555572656
NM_000088.3(COL1A1):c.2532C>T (p.Ala844=) rs374158703
NM_000088.3(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.3(COL1A1):c.2560-18C>G rs2075559
NM_000088.3(COL1A1):c.2560-18C>T rs2075559
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.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2615G>T (p.Gly872Val) rs1555572537
NM_000088.3(COL1A1):c.262G>T (p.Glu88Ter) rs1555575370
NM_000088.3(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.2668-7C>T rs1555572488
NM_000088.3(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512
NM_000088.3(COL1A1):c.2784delT (p.Gly929Alafs) rs72653155
NM_000088.3(COL1A1):c.2829+20T>C rs372169804
NM_000088.3(COL1A1):c.2830-11G>A rs1555572425
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.2937+9C>T rs1555572393
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.298+48_298+54delCTGGGGC rs150854949
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.299-20C>G rs2256835
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3046G>A (p.Gly1016Arg) rs1555572331
NM_000088.3(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3099+15C>A rs1189154641
NM_000088.3(COL1A1):c.3099+1G>A rs1555572316
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3102T>C (p.Gly1034=) rs147743501
NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3123delC (p.Ala1042Leufs) rs886039693
NM_000088.3(COL1A1):c.3150_3158delTCCTGGTGC (p.Ala1053_Gly1055del) rs74315111
NM_000088.3(COL1A1):c.3150_3158dupTCCTGGTGC (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.3(COL1A1):c.3157_3170delGCCCCTGGCCCCGT (p.Ala1053Trpfs) rs1555572249
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3207+1G>A rs1555572239
NM_000088.3(COL1A1):c.3207+1_3207+2delGT rs1064796200
NM_000088.3(COL1A1):c.3208G>A (p.Gly1070Ser) rs1057518221
NM_000088.3(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3237C>A (p.Gly1079=) rs374853330
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3255C>T (p.Gly1085=) rs369670483
NM_000088.3(COL1A1):c.3301G>T (p.Glu1101Ter) rs867628651
NM_000088.3(COL1A1):c.3309C>T (p.Gly1103=) rs142312753
NM_000088.3(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3360delT (p.Gly1121Alafs) rs1260429820
NM_000088.3(COL1A1):c.3379G>T (p.Gly1127Cys) rs1555572024
NM_000088.3(COL1A1):c.3406G>A (p.Gly1136Ser) rs1555572015
NM_000088.3(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.3(COL1A1):c.3415G>A (p.Gly1139Ser) rs886041904
NM_000088.3(COL1A1):c.3416G>A (p.Gly1139Asp) rs1064796499
NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314
NM_000088.3(COL1A1):c.3424-10C>T rs1555571948
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3465C>T (p.Leu1155=) rs368746726
NM_000088.3(COL1A1):c.3468C>T (p.Asn1156=) rs149980662
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3495delT (p.Gly1166Valfs) rs1555571916
NM_000088.3(COL1A1):c.3504C>T (p.Arg1168=) rs370529603
NM_000088.3(COL1A1):c.3531+10C>A rs41316721
NM_000088.3(COL1A1):c.3531+14C>T rs199766533
NM_000088.3(COL1A1):c.3532-13C>T rs369694934
NM_000088.3(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340
NM_000088.3(COL1A1):c.3652G>C (p.Ala1218Pro) rs72656337
NM_000088.3(COL1A1):c.3680G>A (p.Arg1227His) rs543809032
NM_000088.3(COL1A1):c.3687C>T (p.Leu1229=) rs765353412
NM_000088.3(COL1A1):c.3726C>A (p.Ile1242=) rs768572265
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425
NM_000088.3(COL1A1):c.4017C>T (p.Gly1339=) rs201256042
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4035delT (p.Ala1346Profs) rs1064796415
NM_000088.3(COL1A1):c.4080C>T (p.Thr1360=) rs753536372
NM_000088.3(COL1A1):c.408A>G (p.Gly136=) rs533127847
NM_000088.3(COL1A1):c.4110C>A (p.Cys1370Ter) rs886041552
NM_000088.3(COL1A1):c.4113G>A (p.Lys1371=) rs41316723
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4182C>T (p.Asn1394=) rs755763693
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.4245C>A (p.Cys1415Ter) rs1555571589
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4257C>T (p.Thr1419=) rs144134990
NM_000088.3(COL1A1):c.4281T>C (p.Ile1427=) rs41316725
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.4362C>T (p.Phe1454=) rs758524007
NM_000088.3(COL1A1):c.458dup (p.Gly154Trpfs) rs1114167407
NM_000088.3(COL1A1):c.459T>C (p.Pro153=) rs1555575026
NM_000088.3(COL1A1):c.471+14C>G rs774281966
NM_000088.3(COL1A1):c.472-1G>T rs72667020
NM_000088.3(COL1A1):c.501T>A (p.Tyr167Ter) rs946705319
NM_000088.3(COL1A1):c.544-4A>G rs369898579
NM_000088.3(COL1A1):c.579delT (p.Gly194Valfs) rs72667023
NM_000088.3(COL1A1):c.588+15C>T rs371817394
NM_000088.3(COL1A1):c.588+16G>A rs191715075
NM_000088.3(COL1A1):c.589-20T>C rs370564344
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.642+11T>C rs376087528
NM_000088.3(COL1A1):c.642+18A>C rs16948767
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.696+6T>C rs747108049
NM_000088.3(COL1A1):c.750+12G>T rs79480112
NM_000088.3(COL1A1):c.751-1G>A rs1555574516
NM_000088.3(COL1A1):c.751G>T (p.Gly251Cys) rs72645317
NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.801C>T (p.His267=) rs769689009
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.865C>T (p.Pro289Ser) rs1057524833
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.964C>T (p.Arg322Cys) rs777644312
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000088.3(COL1A1):c.999C>T (p.Pro333=) rs62637627

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.