ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
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.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.*939G>T rs539647365 0.00021
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.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.2408T>C (p.Leu803Ser) rs149737825 0.00006
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.376G>A (p.Gly126Ser) rs779153546 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.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 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.1960G>A (p.Gly654Ser) rs773726323 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.3373G>A (p.Gly1125Arg) rs151187317 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.323G>A (p.Gly108Asp) rs954753747 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.4114-14C>G rs777751790 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.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=) rs144540534 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.2101C>A (p.Pro701Thr) rs765785677 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys) rs760537680 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2553+30A>G rs1350030532 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.2742G>A (p.Ala914=) rs773825862 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.3071C>T (p.Ala1024Val) rs763462242 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.3317G>A (p.Arg1106Gln) rs369725456 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.353C>G (p.Pro118Arg) rs1224192066 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.3823C>T (p.Leu1275Phe) rs570175207 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 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.4238A>G (p.Asp1413Gly) rs1685415466 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.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
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.1257+5G>C rs1553515867
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.1401G>A (p.Pro467=) rs1553515794
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.1580G>A (p.Arg527His) rs1260469713
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro) rs2105594391
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.1924-3T>A rs794727471
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.2291C>T (p.Pro764Leu) rs150260969
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.2471T>A (p.Val824Asp)
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His) rs1576496167
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.2570C>T (p.Pro857Leu) rs938162476
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.2762G>C (p.Gly921Ala) rs150206569
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala) rs1349278394
NM_000393.5(COL5A2):c.2770-6T>A
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.2970G>A (p.Gly990=) rs933589600
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.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser) rs1576493048
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.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro) rs2153507378
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.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
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.3524G>A (p.Arg1175Lys)
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del) rs1553512960
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.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu) rs2153506528
NM_000393.5(COL5A2):c.3721G>A (p.Asp1241Asn) rs1576486531
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.4106G>A (p.Gly1369Glu) rs759631023
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.4343A>G (p.Asp1448Gly) rs1275257471
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
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.638G>C (p.Gly213Ala) rs753789459
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.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln) rs545574407
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)

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.