ClinVar Miner

Variants in gene COL4A1 with conflicting interpretations

See also:
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
2290 426 0 76 67 1 24 155

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 protective other
pathogenic 0 14 1 0 0 0 0
likely pathogenic 14 0 22 1 0 0 0
uncertain significance 2 23 0 60 16 1 1
likely benign 0 1 59 0 62 0 0
benign 0 0 15 62 0 0 0

All variants with conflicting interpretations #

Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.01977
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01024
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00781
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00454
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068 0.00419
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00328
NM_001845.6(COL4A1):c.4755+18C>T rs191620431 0.00315
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00200
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00186
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548 0.00083
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00082
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00066
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082 0.00046
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00044
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00030
NM_001845.6(COL4A1):c.3949+6A>G rs374341500 0.00030
NM_001845.6(COL4A1):c.3325+8del rs559877621 0.00028
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00024
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00024
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00023
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00019
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_001845.6(COL4A1):c.1187G>A (p.Arg396Gln) rs138266832 0.00016
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00013
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00011
NM_001845.6(COL4A1):c.144+11G>A rs568845737 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His) rs144950610 0.00007
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile) rs202209298 0.00007
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00006
NM_001845.6(COL4A1):c.1000-8C>T rs199822852 0.00005
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00005
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00005
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00005
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00005
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly) rs138553193 0.00005
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) rs369960952 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser) rs753989899 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00003
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu) rs75885959 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser) rs769247289 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001845.6(COL4A1):c.1990+4C>T rs771634502 0.00002
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00002
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser) rs370670458 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.3505+4del rs749942977 0.00001
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=) rs1474341500 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_001845.6(COL4A1):c.4151-10T>C rs756588136 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.4249+10G>A rs1004640402 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg) rs368900861 0.00001
NM_001845.6(COL4A1):c.1111G>A (p.Gly371Arg) rs1386813633
NM_001845.6(COL4A1):c.1144G>A (p.Gly382Ser)
NM_001845.6(COL4A1):c.1466-7A>C rs772338095
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu) rs139448202
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del) rs751234195
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser) rs755517991
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu) rs1013805396
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu) rs199573161
NM_001845.6(COL4A1):c.217G>A (p.Gly73Arg)
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu) rs2139164015
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter) rs1877904298
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3877-8G>T rs370539477
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu) rs1877384330
NM_001845.6(COL4A1):c.3989ATCAAGGCG[1] (p.1330DQG[1]) rs1471879261
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.469-7C>A rs1409868711
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) rs1566376798
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001845.6(COL4A1):c.958-5del rs749003041
Single allele

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