ClinVar Miner

List of variants in gene COL5A2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.*19G>A rs199758990
NM_000393.4(COL5A2):c.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.4(COL5A2):c.-34C>T rs114102476
NM_000393.4(COL5A2):c.-37T>G rs780293852
NM_000393.4(COL5A2):c.-50C>T rs183260194
NM_000393.4(COL5A2):c.1006-9C>T rs73978832
NM_000393.4(COL5A2):c.1011G>A (p.Pro337=) rs762983955
NM_000393.4(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.4(COL5A2):c.1104+15T>C rs75486409
NM_000393.4(COL5A2):c.1105-11T>G rs1057523251
NM_000393.4(COL5A2):c.1105-3T>C rs886038289
NM_000393.4(COL5A2):c.1158+14G>A rs1057523022
NM_000393.4(COL5A2):c.1159-13T>C rs756321922
NM_000393.4(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1188C>T (p.Gly396=) rs863223485
NM_000393.4(COL5A2):c.1257+12G>A rs759316090
NM_000393.4(COL5A2):c.1302+9T>C rs1199559237
NM_000393.4(COL5A2):c.1303-16T>A rs1057524650
NM_000393.4(COL5A2):c.1311A= (p.Pro437=) rs2229495
NM_000393.4(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.4(COL5A2):c.1455+6G>A rs113512079
NM_000393.4(COL5A2):c.1455+6G>T rs113512079
NM_000393.4(COL5A2):c.1455+6delG rs763475800
NM_000393.4(COL5A2):c.1456-20T>C rs150724439
NM_000393.4(COL5A2):c.1534G>A (p.Val512Ile) rs1022068246
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.4(COL5A2):c.1563+5A>G rs777118100
NM_000393.4(COL5A2):c.1617+9G>T rs186490845
NM_000393.4(COL5A2):c.1618-17G>A rs1272843185
NM_000393.4(COL5A2):c.1618-19C>G rs189970491
NM_000393.4(COL5A2):c.1716+12G>A rs745767713
NM_000393.4(COL5A2):c.1716+13C>G rs779517028
NM_000393.4(COL5A2):c.1716+7A>G rs1057520896
NM_000393.4(COL5A2):c.1716+9A>G rs201934598
NM_000393.4(COL5A2):c.1776G>A (p.Ala592=) rs773332771
NM_000393.4(COL5A2):c.1833C>T (p.Pro611=) rs765364009
NM_000393.4(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.4(COL5A2):c.1923+5dupA rs1553515318
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.1977+12T>C rs202204374
NM_000393.4(COL5A2):c.1977+12T>G rs202204374
NM_000393.4(COL5A2):c.1977+6T>A rs863223486
NM_000393.4(COL5A2):c.2032-39A>T rs6414122
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.204C>A (p.Ala68=) rs1553519038
NM_000393.4(COL5A2):c.2055_2057delTCCinsAGG (p.Pro686Gly) rs1064795111
NM_000393.4(COL5A2):c.2086-12delA rs5837121
NM_000393.4(COL5A2):c.2086-13_2086-12delAA rs5837121
NM_000393.4(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.4(COL5A2):c.2230-16T>A rs375334470
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2338-6T>C rs375291199
NM_000393.4(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.4(COL5A2):c.2392-18T>C rs746722538
NM_000393.4(COL5A2):c.2392-4A>G rs758314268
NM_000393.4(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.4(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.4(COL5A2):c.2500-17T>C rs530643338
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.2554-5T>C rs373495598
NM_000393.4(COL5A2):c.2661+13G>T rs534626192
NM_000393.4(COL5A2):c.2661+20G>A rs79623676
NM_000393.4(COL5A2):c.270G>A (p.Gly90=) rs756103588
NM_000393.4(COL5A2):c.2715+11T>C rs371363636
NM_000393.4(COL5A2):c.2715+16G>A rs774654781
NM_000393.4(COL5A2):c.2716-4C>T rs111644889
NM_000393.4(COL5A2):c.2769+10C>T rs777299355
NM_000393.4(COL5A2):c.2769+19A>T rs111609220
NM_000393.4(COL5A2):c.2770-15delT rs577038385
NM_000393.4(COL5A2):c.2770-20T>G rs1553514295
NM_000393.4(COL5A2):c.2770-5A>G rs370313198
NM_000393.4(COL5A2):c.2770-6T>C rs770409954
NM_000393.4(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.4(COL5A2):c.283G>C (p.Val95Leu) rs1200990468
NM_000393.4(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.4(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.4(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.4(COL5A2):c.2931+11C>T rs184002749
NM_000393.4(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.4(COL5A2):c.2963C>T (p.Thr988Met) rs369072636
NM_000393.4(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.4(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.4(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.4(COL5A2):c.3039+15C>A rs114619770
NM_000393.4(COL5A2):c.3039+15C>T rs114619770
NM_000393.4(COL5A2):c.3039+7A>G rs369227715
NM_000393.4(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.4(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242
NM_000393.4(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.4(COL5A2):c.315C= (p.Thr105=) rs4128539
NM_000393.4(COL5A2):c.315C>A (p.Thr105=) rs4128539
NM_000393.4(COL5A2):c.3162T>C (p.Asn1054=) rs769755441
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+157C>T rs4128538
NM_000393.4(COL5A2):c.322+18C>G rs201708256
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.4(COL5A2):c.323-15C>G rs766670107
NM_000393.4(COL5A2):c.323-9T>A rs1553518634
NM_000393.4(COL5A2):c.3309+16A>G rs369424272
NM_000393.4(COL5A2):c.3309+6G>T rs775681859
NM_000393.4(COL5A2):c.3309+7A>G rs1553513652
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744
NM_000393.4(COL5A2):c.3364-17C>T rs201720941
NM_000393.4(COL5A2):c.337-26T>C rs56380683
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3411T= (p.Gly1137=) rs6434312
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3472-16T>C rs1057522404
NM_000393.4(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.4(COL5A2):c.3598G>A (p.Gly1200Ser) rs1057518566
NM_000393.4(COL5A2):c.369+20T>A rs1057523292
NM_000393.4(COL5A2):c.370-16C>T rs148220961
NM_000393.4(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.4(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.4(COL5A2):c.3855C>T (p.Pro1285=) rs199904322
NM_000393.4(COL5A2):c.3864G>A (p.Ser1288=) rs754605516
NM_000393.4(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.4(COL5A2):c.403-16T>A rs117085226
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4113+16delT rs779762130
NM_000393.4(COL5A2):c.4113+47C>T rs12693526
NM_000393.4(COL5A2):c.4114-11T>C rs587780908
NM_000393.4(COL5A2):c.4114-17A>G rs778711548
NM_000393.4(COL5A2):c.4114-19_4114-18delAG rs1440458273
NM_000393.4(COL5A2):c.4114-20A>G rs1057523545
NM_000393.4(COL5A2):c.4116C>T (p.Phe1372=) rs755092575
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.4(COL5A2):c.4353+8C>G rs1057523735
NM_000393.4(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715
NM_000393.4(COL5A2):c.4383C>G (p.Val1461=) rs368234550
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.4(COL5A2):c.567+17G>T rs780672109
NM_000393.4(COL5A2):c.567+7T>C rs755666206
NM_000393.4(COL5A2):c.568-10G>A rs58106884
NM_000393.4(COL5A2):c.568-15A>G rs1057522247
NM_000393.4(COL5A2):c.744+18A>G rs373820975
NM_000393.4(COL5A2):c.745-13G>A rs145442880
NM_000393.4(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.4(COL5A2):c.799-6A>G rs111586240
NM_000393.4(COL5A2):c.852+14C>T rs56310996
NM_000393.4(COL5A2):c.853-13G>A rs1553516867
NM_000393.4(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.4(COL5A2):c.906+10A>T rs776578452
NM_000393.4(COL5A2):c.906+12C>G rs1057521955
NM_000393.4(COL5A2):c.906+14A>G rs768645507
NM_000393.4(COL5A2):c.907-5C>A rs756538217
NM_000393.4(COL5A2):c.961-14T>C rs199880428
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.4(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.4(COL5A2):c.98-12T>G rs117917418
NM_000393.4(COL5A2):c.98-13T>A rs376487446

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.