ClinVar Miner

List of variants in gene COL4A5 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.1340-1G>A rs753437190 0.00001
NM_033380.3(COL4A5):c.2227G>A (p.Gly743Ser) rs749817240 0.00001
NM_033380.3(COL4A5):c.2510-2A>G rs760109866 0.00001
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) rs1569488381 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NC_000023.10:g.(?_107782956)_(107852872_?)dup
NC_000023.10:g.(?_107782956)_(107898707_?)dup
NC_000023.10:g.(?_107819120)_(107820077_?)del
NC_000023.10:g.(?_107823743)_(107925138_?)dup
NM_033380.3(COL4A5):c.1031_1032+2del rs2066302717
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.1075G>C (p.Gly359Arg)
NM_033380.3(COL4A5):c.1103G>A (p.Gly368Glu) rs752609517
NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>C (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1138G>C (p.Gly380Arg) rs2066342908
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) rs1569492161
NM_033380.3(COL4A5):c.1190G>A (p.Gly397Asp)
NM_033380.3(COL4A5):c.1208G>A (p.Gly403Glu)
NM_033380.3(COL4A5):c.1234G>A (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1304G>A (p.Gly435Glu)
NM_033380.3(COL4A5):c.1304_1305delinsTT (p.Gly435Val) rs2147797124
NM_033380.3(COL4A5):c.1339+2T>A
NM_033380.3(COL4A5):c.133G>A (p.Gly45Arg)
NM_033380.3(COL4A5):c.134G>A (p.Gly45Glu)
NM_033380.3(COL4A5):c.1369G>A (p.Gly457Ser) rs2147798001
NM_033380.3(COL4A5):c.1370G>A (p.Gly457Asp) rs2147798012
NM_033380.3(COL4A5):c.1377_1378delinsGA (p.Gly460Arg)
NM_033380.3(COL4A5):c.1378G>C (p.Gly460Arg) rs2066435557
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1424-2A>G rs759179999
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg) rs2147722151
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1571G>A (p.Gly524Asp) rs104886119
NM_033380.3(COL4A5):c.1588-2A>T
NM_033380.3(COL4A5):c.1591_1599del (p.Ile531_Gly533del)
NM_033380.3(COL4A5):c.1606G>A (p.Gly536Ser)
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)
NM_033380.3(COL4A5):c.161G>T (p.Gly54Val) rs104886043
NM_033380.3(COL4A5):c.1681G>A (p.Gly561Arg) rs104886136
NM_033380.3(COL4A5):c.1682G>A (p.Gly561Glu)
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1762G>A (p.Gly588Ser)
NM_033380.3(COL4A5):c.1763G>A (p.Gly588Asp)
NM_033380.3(COL4A5):c.1777_1779+5del rs2147810566
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.178G>A (p.Gly60Arg)
NM_033380.3(COL4A5):c.1817G>T (p.Gly606Val)
NM_033380.3(COL4A5):c.1856C>T (p.Pro619Leu) rs281874681
NM_033380.3(COL4A5):c.1870G>C (p.Gly624Arg)
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.1886G>A (p.Gly629Asp) rs104886144
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1940G>A (p.Gly647Glu) rs2147813867
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp) rs2066625021
NM_033380.3(COL4A5):c.2015G>A (p.Gly672Asp)
NM_033380.3(COL4A5):c.2024G>A (p.Gly675Asp)
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.2032G>A (p.Gly678Ser)
NM_033380.3(COL4A5):c.2033G>A (p.Gly678Asp) rs2147819583
NM_033380.3(COL4A5):c.2069G>T (p.Gly690Val)
NM_033380.3(COL4A5):c.2086G>T (p.Gly696Cys)
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2244+2T>C
NM_033380.3(COL4A5):c.2246G>A (p.Gly749Asp) rs2066734214
NM_033380.3(COL4A5):c.224G>T (p.Gly75Val)
NM_033380.3(COL4A5):c.2268TGGGCCACC[1] (p.758PPG[1])
NM_033380.3(COL4A5):c.2287G>C (p.Gly763Arg)
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.2296G>C (p.Gly766Arg)
NM_033380.3(COL4A5):c.2306G>A (p.Gly769Glu) rs1437633065
NM_033380.3(COL4A5):c.2315G>C (p.Gly772Ala) rs104886173
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_033380.3(COL4A5):c.232G>A (p.Gly78Ser)
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2342_2343delinsTG (p.Gly781Val) rs2147832375
NM_033380.3(COL4A5):c.2359G>C (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2377G>A (p.Gly793Arg)
NM_033380.3(COL4A5):c.2404G>A (p.Gly802Arg) rs104886179
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2509+1G>T
NM_033380.3(COL4A5):c.2510-1G>A rs770451831
NM_033380.3(COL4A5):c.2510-1_2514del rs2147859764
NM_033380.3(COL4A5):c.2510G>A (p.Gly837Asp)
NM_033380.3(COL4A5):c.2554G>A (p.Gly852Arg) rs104886186
NM_033380.3(COL4A5):c.2624G>A (p.Gly875Glu) rs104886191
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2713G>A (p.Gly905Ser)
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2740G>A (p.Gly914Ser)
NM_033380.3(COL4A5):c.2741G>C (p.Gly914Ala)
NM_033380.3(COL4A5):c.2749G>A (p.Gly917Ser)
NM_033380.3(COL4A5):c.2750G>A (p.Gly917Asp)
NM_033380.3(COL4A5):c.2759G>T (p.Gly920Val)
NM_033380.3(COL4A5):c.275_276+2del
NM_033380.3(COL4A5):c.2785G>A (p.Gly929Ser)
NM_033380.3(COL4A5):c.2786G>A (p.Gly929Asp) rs2147865584
NM_033380.3(COL4A5):c.278G>T (p.Gly93Val) rs2147746087
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2794G>C (p.Gly932Arg)
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser) rs2147865920
NM_033380.3(COL4A5):c.2927G>T (p.Gly976Val)
NM_033380.3(COL4A5):c.2936G>A (p.Gly979Glu)
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.296G>C (p.Gly99Ala)
NM_033380.3(COL4A5):c.2981G>C (p.Gly994Ala)
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp) rs104886202
NM_033380.3(COL4A5):c.3052G>A (p.Gly1018Ser)
NM_033380.3(COL4A5):c.3079G>A (p.Gly1027Arg) rs2147872254
NM_033380.3(COL4A5):c.3080G>A (p.Gly1027Glu) rs104886209
NM_033380.3(COL4A5):c.3107-4A>G rs397515497
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.314G>A (p.Gly105Asp) rs1569488381
NM_033380.3(COL4A5):c.3169G>C (p.Gly1057Arg)
NM_033380.3(COL4A5):c.3170G>A (p.Gly1057Glu)
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.321+1G>A rs2147746303
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_033380.3(COL4A5):c.3310G>A (p.Gly1104Ser)
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_033380.3(COL4A5):c.3320G>A (p.Gly1107Glu)
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3373+2T>C rs2147935467
NM_033380.3(COL4A5):c.3400G>A (p.Gly1134Ser)
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.340G>A (p.Gly114Arg)
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.3(COL4A5):c.3436G>A (p.Gly1146Arg) rs2147953043
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3454G>T (p.Gly1152Cys) rs2147953102
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.3(COL4A5):c.3500G>A (p.Gly1167Asp)
NM_033380.3(COL4A5):c.3508G>T (p.Gly1170Cys) rs104886237
NM_033380.3(COL4A5):c.3509G>T (p.Gly1170Val)
NM_033380.3(COL4A5):c.3526G>A (p.Gly1176Arg) rs1569505525
NM_033380.3(COL4A5):c.3536G>T (p.Gly1179Val) rs2147955255
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.3(COL4A5):c.3605G>T (p.Gly1202Val) rs2068126366
NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg) rs2147959120
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3686G>A (p.Gly1229Asp) rs104886253
NM_033380.3(COL4A5):c.3686G>C (p.Gly1229Ala) rs104886253
NM_033380.3(COL4A5):c.3686G>T (p.Gly1229Val) rs104886253
NM_033380.3(COL4A5):c.3695G>A (p.Gly1232Asp)
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3713G>A (p.Gly1238Asp)
NM_033380.3(COL4A5):c.3721G>A (p.Gly1241Ser) rs104886255
NM_033380.3(COL4A5):c.3730G>A (p.Gly1244Ser) rs143552311
NM_033380.3(COL4A5):c.3730G>C (p.Gly1244Arg) rs143552311
NM_033380.3(COL4A5):c.3754G>A (p.Gly1252Ser) rs104886262
NM_033380.3(COL4A5):c.3755G>A (p.Gly1252Asp) rs2147959671
NM_033380.3(COL4A5):c.3773G>A (p.Gly1258Asp)
NM_033380.3(COL4A5):c.3781G>A (p.Gly1261Arg) rs2147959775
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp) rs2147974770
NM_033380.3(COL4A5):c.3809G>T (p.Gly1270Val) rs2147974770
NM_033380.3(COL4A5):c.3827G>T (p.Gly1276Val) rs2147974833
NM_033380.3(COL4A5):c.384+1G>A rs1569488437
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg)
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs) rs2068330297
NM_033380.3(COL4A5):c.3890G>T (p.Gly1297Val)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.3917G>T (p.Gly1306Val)
NM_033380.3(COL4A5):c.3942_3942+1del rs2147975210
NM_033380.3(COL4A5):c.3943-1G>A rs281874725
NM_033380.3(COL4A5):c.3944G>T (p.Gly1315Val) rs2147979912
NM_033380.3(COL4A5):c.394G>A (p.Gly132Arg) rs2147753780
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_033380.3(COL4A5):c.3970G>A (p.Gly1324Arg) rs2068409652
NM_033380.3(COL4A5):c.3989G>C (p.Gly1330Ala) rs2147980049
NM_033380.3(COL4A5):c.4015+2T>C rs2147980108
NM_033380.3(COL4A5):c.4016G>A (p.Gly1339Asp)
NM_033380.3(COL4A5):c.4042G>A (p.Gly1348Arg) rs1569507398
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)
NM_033380.3(COL4A5):c.4060G>T (p.Gly1354Trp)
NM_033380.3(COL4A5):c.4069G>A (p.Gly1357Arg)
NM_033380.3(COL4A5):c.4070G>A (p.Gly1357Glu) rs104886402
NM_033380.3(COL4A5):c.4088-2A>G
NM_033380.3(COL4A5):c.4088G>C (p.Gly1363Ala) rs2147982015
NM_033380.3(COL4A5):c.413G>A (p.Gly138Asp) rs2147753910
NM_033380.3(COL4A5):c.4145G>A (p.Gly1382Asp)
NM_033380.3(COL4A5):c.4145G>C (p.Gly1382Ala) rs2147982134
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del) rs1569507550
NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser)
NM_033380.3(COL4A5):c.4172G>T (p.Gly1391Val)
NM_033380.3(COL4A5):c.4180G>T (p.Gly1394Cys)
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.4270G>A (p.Gly1424Ser)
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg) rs1569508169
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4360G>C (p.Gly1454Arg) rs104886279
NM_033380.3(COL4A5):c.439G>A (p.Gly147Arg) rs2066069145
NM_033380.3(COL4A5):c.440G>A (p.Gly147Glu)
NM_033380.3(COL4A5):c.4474G>A (p.Gly1492Ser) rs2147991584
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.4703_4706+3del rs2068660300
NM_033380.3(COL4A5):c.4707-1G>A
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.476G>T (p.Gly159Val)
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4913G>A (p.Cys1638Tyr) rs1569509333
NM_033380.3(COL4A5):c.5050T>G (p.Cys1684Gly) rs104886310
NM_033380.3(COL4A5):c.511G>A (p.Gly171Ser) rs1556404027
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala)
NM_033380.3(COL4A5):c.546+4_546+7del rs1569489348
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser)
NM_033380.3(COL4A5):c.557G>A (p.Gly186Asp) rs2147765101
NM_033380.3(COL4A5):c.575G>A (p.Gly192Glu) rs2147765197
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.609+875G>T rs1569490148
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.620G>T (p.Gly207Val)
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.645+2T>C rs1569490387
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.716G>A (p.Gly239Glu) rs104886068
NM_033380.3(COL4A5):c.780+1G>A
NM_033380.3(COL4A5):c.782G>A (p.Gly261Glu) rs2147776049
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.826G>A (p.Gly276Ser)
NM_033380.3(COL4A5):c.835-1G>C
NM_033380.3(COL4A5):c.835-2A>G rs1556406859
NM_033380.3(COL4A5):c.857G>C (p.Gly286Ala)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.891+2del
NM_033380.3(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075
NM_033380.3(COL4A5):c.902G>T (p.Gly301Val)
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.928G>A (p.Gly310Arg) rs104886083
NM_033380.3(COL4A5):c.936+1G>A rs1569491107
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084
NM_033380.3(COL4A5):c.946G>A (p.Gly316Ser) rs2066273571
NM_033380.3(COL4A5):c.983G>T (p.Gly328Val) rs2066274585
NM_033380.3(COL4A5):c.983del (p.Gly328fs) rs1556407684
NM_033380.3(COL4A5):c.990+1G>T rs1556407701

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