ClinVar Miner

List of variants in gene COL5A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP
NM_000393.3(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1181C>T (p.Ala394Val) rs370121305
NM_000393.3(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.3(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.3(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
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.1401G>A (p.Pro467=) rs1553515794
NM_000393.3(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.3(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441
NM_000393.3(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.3(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.3(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.3(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.3(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.3(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503
NM_000393.3(COL5A2):c.1716+5G>A rs863223504
NM_000393.3(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505
NM_000393.3(COL5A2):c.1793G>A (p.Arg598His) rs529317104
NM_000393.3(COL5A2):c.1853G>A (p.Gly618Asp) rs751229175
NM_000393.3(COL5A2):c.1928C>T (p.Ala643Val) rs767643591
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.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.3(COL5A2):c.2072A>C (p.Lys691Thr) rs142224646
NM_000393.3(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.3(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.3(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680
NM_000393.3(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.3(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.3(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.3(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.3(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.3(COL5A2):c.2549C>T (p.Pro850Leu) rs863223493
NM_000393.3(COL5A2):c.2557C>A (p.Pro853Thr) rs863223506
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.3(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.3(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.3(COL5A2):c.2715+4A>G rs1553514423
NM_000393.3(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.3(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025
NM_000393.3(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.3(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.3(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
NM_000393.3(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.3(COL5A2):c.2993C>T (p.Pro998Leu) rs863223494
NM_000393.3(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.3(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363
NM_000393.3(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.3(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.3(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.3(COL5A2):c.322+1G>C rs770598613
NM_000393.3(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.3(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.3(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.3(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.3(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.3(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.3(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.3(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.3(COL5A2):c.3431A>G (p.His1144Arg) rs1418496907
NM_000393.3(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.3(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.3(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.3(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.3(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000393.3(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496
NM_000393.3(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.3(COL5A2):c.3650C>G (p.Pro1217Arg) rs863223509
NM_000393.3(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
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.3716A>G (p.His1239Arg) rs773321546
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.3(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.3(COL5A2):c.388C>T (p.Arg130Cys) rs754170105
NM_000393.3(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.3(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.3(COL5A2):c.398C>T (p.Pro133Leu) rs374225489
NM_000393.3(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000393.3(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.3(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.3(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.3(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283
NM_000393.3(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.3(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198
NM_000393.3(COL5A2):c.4172G>A (p.Arg1391His) rs150931608
NM_000393.3(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158
NM_000393.3(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.3(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.3(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.3(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.3(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.3(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.3(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.3(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.3(COL5A2):c.712C>T (p.Pro238Ser) rs763287143
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.3(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.3(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
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.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.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.2032-7G>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.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.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.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.3162T>C (p.Asn1054=) rs769755441
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
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.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3364-17C>T rs201720941
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3411T= (p.Gly1137=) rs6434312
NM_000393.4(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303
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.403-16T>A rs117085226
NM_000393.4(COL5A2):c.4113+16delT rs779762130
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.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

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