ClinVar Miner

Variants in gene COL4A5 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
3008 276 0 152 49 0 35 219

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 93 9 1 1
likely pathogenic 93 0 29 0 1
uncertain significance 9 29 0 36 23
likely benign 1 0 36 0 59
benign 1 1 23 59 0

All variants with conflicting interpretations #

Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.232-17A>C rs111438962 0.00598
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00420
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser) rs151278542 0.00294
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00139
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156 0.00091
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00025
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00020
NM_033380.3(COL4A5):c.3107-11A>T rs190579028 0.00020
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.3374-11C>A rs104886387 0.00018
NM_033380.3(COL4A5):c.546+15A>T rs201859878 0.00018
NM_033380.3(COL4A5):c.1275C>T (p.Asp425=) rs144674397 0.00017
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser) rs374201703 0.00013
NM_033380.3(COL4A5):c.3943-17T>G rs200247683 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00011
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser) rs182634806 0.00011
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337 0.00011
NM_033380.3(COL4A5):c.5012C>T (p.Thr1671Met) rs745360151 0.00011
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.4216+10C>T rs759735924 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.3957G>T (p.Arg1319=) rs758920904 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.3960G>A (p.Pro1320=) rs752288966 0.00006
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00006
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) rs747288279 0.00005
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) rs773883586 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4529-6T>C rs775079914 0.00005
NM_033380.3(COL4A5):c.4539C>A (p.Gly1513=) rs921889119 0.00005
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285 0.00005
NM_033380.3(COL4A5):c.465+12A>T rs184637253 0.00005
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.322-18T>C rs753078290 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_033380.3(COL4A5):c.4643C>T (p.Pro1548Leu) rs771101410 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_033380.3(COL4A5):c.2520A>G (p.Gly840=) rs372853807 0.00003
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val) rs768478427 0.00003
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_033380.3(COL4A5):c.3604+19T>A rs746489621 0.00003
NM_033380.3(COL4A5):c.1035A>C (p.Val345=) rs780982202 0.00002
NM_033380.3(COL4A5):c.124G>A (p.Gly42Ser) rs371351149 0.00002
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00002
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=) rs141247183 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.990G>T (p.Lys330Asn) rs1351189637 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr) rs781016371 0.00001
NM_033380.3(COL4A5):c.220C>T (p.Arg74Trp) rs1052281498 0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) rs762935451 0.00001
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr) rs754487739 0.00001
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=) rs1350852221 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.3609A>G (p.Gln1203=) rs767920190 0.00001
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00001
NM_033380.3(COL4A5):c.4076T>C (p.Ile1359Thr) rs1431386295 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.555T>C (p.Pro185=) rs1261311680 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1]) rs765552839
NM_033380.3(COL4A5):c.1091C>T (p.Pro364Leu)
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) rs104886101
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1780G>A (p.Gly594Ser) rs104886131
NM_033380.3(COL4A5):c.1807G>C (p.Gly603Arg)
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp) rs104886133
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val) rs104886145
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.1966G>A (p.Gly656Ser)
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) rs2066625376
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser) rs104886157
NM_033380.3(COL4A5):c.2024G>A (p.Gly675Asp) rs2524325926
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.2323G>A (p.Gly775Ser)
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser) rs2524375503
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2510-2A>G rs760109866
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2633G>C (p.Gly878Ala)
NM_033380.3(COL4A5):c.2687G>T (p.Gly896Val) rs2524403534
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2767+4A>G rs2524404232
NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val) rs2147865541
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_033380.3(COL4A5):c.3016+1G>A rs104886377
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
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.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3374-13C>G
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3454+1G>C
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.3(COL4A5):c.358G>A (p.Gly120Ser) rs2524196968
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.3(COL4A5):c.3613G>A (p.Gly1205Ser) rs104886245
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) 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.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.385-2A>G rs2066062676
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser) rs764755602
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.412G>C (p.Gly138Arg)
NM_033380.3(COL4A5):c.4145G>C (p.Gly1382Ala) rs2147982134
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) rs1569508382
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4543T>C (p.Cys1515Arg)
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys) rs104886294
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) rs2524652341
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) rs281874750
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4994+1G>A rs2524654509
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>C (p.Gly177Ala) rs1569489328
NM_033380.3(COL4A5):c.547-11C>G rs1287996085
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) rs104886059
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser) rs2066140289
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.609+875G>T rs1569490148
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763
NM_033380.3(COL4A5):c.730A>T (p.Ile244Phe) rs781741390
NM_033380.3(COL4A5):c.81+75del rs59044748
NM_033380.3(COL4A5):c.834+1G>A rs104886446
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
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.938G>T (p.Gly313Val) rs2147781020
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585
NM_033380.3(COL4A5):c.990+1G>T rs1556407701

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