ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His) rs529317104 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg) rs1418496907 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678 0.00006
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489 0.00004
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743 0.00003
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys) rs747946828 0.00003
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198 0.00003
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr) rs758156613 0.00003
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser) rs372270389 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser) rs780899667 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys) rs1247714244 0.00002
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641 0.00002
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505 0.00001
NM_000393.5(COL5A2):c.1892A>G (p.Glu631Gly) rs918877773 0.00001
NM_000393.5(COL5A2):c.1928C>T (p.Ala643Val) rs767643591 0.00001
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284 0.00001
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2020A>G (p.Thr674Ala) rs1686034098 0.00001
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=) rs141089340 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025 0.00001
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513 0.00001
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209 0.00001
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363 0.00001
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426 0.00001
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) rs539362640 0.00001
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His) rs780705330 0.00001
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser) rs367939836 0.00001
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg) rs863223509 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu) rs745580343 0.00001
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile) rs777866283 0.00001
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala) rs370026245 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met) rs745935107 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala) rs1686805632 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143 0.00001
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228 0.00001
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.10A>C (p.Asn4His) rs1426460695
NM_000393.5(COL5A2):c.1102A>G (p.Met368Val)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
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.1238T>C (p.Val413Ala) rs1430271322
NM_000393.5(COL5A2):c.1339G>C (p.Gly447Arg)
NM_000393.5(COL5A2):c.1340G>A (p.Gly447Glu) rs2105603621
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser) rs863223489
NM_000393.5(COL5A2):c.1397A>C (p.Gln466Pro) rs1021216183
NM_000393.5(COL5A2):c.1475G>A (p.Gly492Asp) rs2105599619
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1534G>A (p.Val512Ile) rs1022068246
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1691G>A (p.Gly564Glu) rs2105594273
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1716+5G>A rs863223504
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp) rs751229175
NM_000393.5(COL5A2):c.2055_2057delinsAGG (p.Pro686Gly) rs1064795111
NM_000393.5(COL5A2):c.2072A>C (p.Lys691Thr) rs142224646
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg) rs142224646
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg) rs863223492
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg) rs1553514917
NM_000393.5(COL5A2):c.2264C>G (p.Thr755Arg) rs2105575372
NM_000393.5(COL5A2):c.2297A>G (p.Glu766Gly) rs2105575251
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2381A>T (p.Asp794Val) rs2105574022
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2522C>T (p.Pro841Leu) rs2105565020
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.2614G>A (p.Ala872Thr)
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2647T>A (p.Ser883Thr)
NM_000393.5(COL5A2):c.2715+4A>G rs1553514423
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala) rs1349278394
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser) rs199530997
NM_000393.5(COL5A2):c.2908G>A (p.Asp970Asn) rs2105558665
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.292C>T (p.Gln98Ter) rs2105711947
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.3002G>C (p.Arg1001Pro)
NM_000393.5(COL5A2):c.305G>A (p.Gly102Asp)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3116C>G (p.Ser1039Cys) rs1367927256
NM_000393.5(COL5A2):c.3128T>G (p.Val1043Gly) rs2153507890
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.5(COL5A2):c.3307C>A (p.Pro1103Thr) rs1685654238
NM_000393.5(COL5A2):c.3309+5G>A rs2153507363
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser) rs1685640502
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile) rs762080305
NM_000393.5(COL5A2):c.3472-11T>G
NM_000393.5(COL5A2):c.3490G>T (p.Gly1164Ter)
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.3506C>A (p.Pro1169His) rs2153506953
NM_000393.5(COL5A2):c.3598G>A (p.Gly1200Ser) rs1057518566
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp) rs1064796676
NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu) rs2153506528
NM_000393.5(COL5A2):c.3731T>A (p.Met1244Lys) rs145100971
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile) rs780628821
NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)
NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys) rs771310130
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.4087G>A (p.Gly1363Ser) rs2153506139
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr) rs1037904709
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr) rs2153505971
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu) rs863223499
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653
NM_000393.5(COL5A2):c.624_644del (p.Leu210_Gly216del)
NM_000393.5(COL5A2):c.691G>A (p.Gly231Ser) rs1396123186
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val) rs863223487
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr) rs1064795517
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)

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