ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance for not provided

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Total variants: 120
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HGVS dbSNP
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1257+5G>C rs1553515867
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503
NM_000393.5(COL5A2):c.1716+5G>A rs863223504
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His) rs529317104
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp) rs751229175
NM_000393.5(COL5A2):c.1924-3T>A rs794727471
NM_000393.5(COL5A2):c.1928C>T (p.Ala643Val) rs767643591
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2072A>C (p.Lys691Thr) rs142224646
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu) rs863223493
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr) rs863223506
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722
NM_000393.5(COL5A2):c.2715+4A>G rs1553514423
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)
NM_000393.5(COL5A2):c.2993C>T (p.Pro998Leu) rs863223494
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg) rs1418496907
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del) rs1553512960
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg) rs863223509
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
NM_000393.5(COL5A2):c.4114-14C>G
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678

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