ClinVar Miner

Variants in gene COL4A2 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
1423 311 0 59 37 0 26 116

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 4 9 0 0
likely pathogenic 4 0 15 1 4
uncertain significance 9 15 0 32 7
likely benign 0 1 32 0 55
benign 0 4 7 55 0

All variants with conflicting interpretations #

Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.02954
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02499
NM_001846.4(COL4A2):c.1340-20A>C rs9515217 0.01851
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01169
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.00988
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) rs62621885 0.00734
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753 0.00717
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=) rs147765396 0.00683
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) rs115373326 0.00459
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533 0.00457
NM_001846.4(COL4A2):c.3634+13G>A rs188658233 0.00457
NM_001846.4(COL4A2):c.1979-6C>T rs190632602 0.00454
NM_001846.4(COL4A2):c.4882-7T>C rs116548600 0.00420
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559 0.00356
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105 0.00302
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) rs148837052 0.00273
NM_001846.4(COL4A2):c.1669+5G>C rs147210424 0.00252
NM_001846.4(COL4A2):c.3634+12C>T rs148069014 0.00210
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser) rs143710874 0.00208
NM_001846.4(COL4A2):c.316-17dup rs201980714 0.00201
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641 0.00186
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_001846.4(COL4A2):c.4400A>C (p.Glu1467Ala) rs202207552 0.00160
NM_001846.4(COL4A2):c.3346+7A>G rs201020737 0.00153
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001846.4(COL4A2):c.3871C>T (p.Leu1291=) rs140883685 0.00150
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751 0.00145
NM_001846.4(COL4A2):c.3025+17G>A rs185903591 0.00137
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528 0.00131
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=) rs375548321 0.00125
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616 0.00102
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977 0.00095
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) rs148709279 0.00091
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) rs372424 0.00080
NM_001846.4(COL4A2):c.385A>G (p.Arg129Gly) rs376759822 0.00067
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572 0.00060
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) rs191708663 0.00059
NM_001846.4(COL4A2):c.608A>T (p.His203Leu) rs201716258 0.00052
NM_001846.4(COL4A2):c.3478C>T (p.Pro1160Ser) rs200189899 0.00044
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) rs372173405 0.00042
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013 0.00040
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00040
NM_001846.4(COL4A2):c.2762A>T (p.Asp921Val) rs369814664 0.00039
NM_001846.4(COL4A2):c.2039-3C>T rs202208839 0.00029
NM_001846.4(COL4A2):c.99+4A>G rs200428476 0.00029
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202 0.00028
NM_001846.4(COL4A2):c.44+9C>T rs377761467 0.00027
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827 0.00025
NM_001846.4(COL4A2):c.4464C>T (p.Ile1488=) rs149928079 0.00020
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_001846.4(COL4A2):c.3135C>T (p.Pro1045=) rs187735087 0.00016
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00015
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) rs756772866 0.00014
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 0.00012
NM_001846.4(COL4A2):c.684+8G>A rs200682990 0.00012
NM_001846.4(COL4A2):c.1978+10A>G rs766115921 0.00011
NM_001846.4(COL4A2):c.1978+4T>C rs372577230 0.00011
NM_001846.4(COL4A2):c.1690G>A (p.Val564Ile) rs374304814 0.00010
NM_001846.4(COL4A2):c.2820C>T (p.Pro940=) rs374749394 0.00010
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933 0.00009
NM_001846.4(COL4A2):c.1500A>T (p.Gly500=) rs144654464 0.00009
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly) rs368207474 0.00009
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) rs201676472 0.00009
NM_001846.4(COL4A2):c.3984C>T (p.Ala1328=) rs538131418 0.00009
NM_001846.4(COL4A2):c.4355G>A (p.Arg1452Gln) rs766357778 0.00007
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg) rs200314049 0.00007
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr) rs199875726 0.00006
NM_001846.4(COL4A2):c.2331G>A (p.Leu777=) rs369620826 0.00006
NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu) rs750061237 0.00006
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg) rs557976330 0.00006
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) rs201640075 0.00006
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys) rs189639861 0.00005
NM_001846.4(COL4A2):c.445C>G (p.Pro149Ala) rs548601003 0.00005
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser) rs377451586 0.00005
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr) rs746145513 0.00004
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr) rs753867828 0.00004
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys) rs199678709 0.00004
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=) rs567530451 0.00003
NM_001846.4(COL4A2):c.2051G>C (p.Gly684Ala) rs201214647 0.00003
NM_001846.4(COL4A2):c.477C>T (p.Pro159=) rs534031166 0.00003
NM_001846.4(COL4A2):c.550-13T>C rs572328853 0.00003
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser) rs561349636 0.00002
NM_001846.4(COL4A2):c.3013C>G (p.Leu1005Val) rs767899188 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001846.4(COL4A2):c.360+2T>C rs2139454253 0.00002
NM_001846.4(COL4A2):c.826-1G>T rs759452442 0.00002
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg) rs779091629 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) rs1271683445 0.00001
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn) rs369865437 0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) rs757047420 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.4165G>A (p.Gly1389Arg) rs1670170578 0.00001
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met) rs376052562 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter) rs1421971452 0.00001
NM_001846.4(COL4A2):c.1166dup (p.Gly390fs) rs2502093530
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter) rs747324600
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp) rs1057523764
NM_001846.4(COL4A2):c.1979-3del rs764182733
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu) rs1882538642
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln) rs529661399
NM_001846.4(COL4A2):c.2353G>A (p.Gly785Arg) rs1882542959
NM_001846.4(COL4A2):c.2821G>A (p.Gly941Arg) rs2502163650
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala) rs201763437
NM_001846.4(COL4A2):c.3280G>A (p.Gly1094Arg) rs2502178460
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg) rs2502178507
NM_001846.4(COL4A2):c.3563-4G>C rs562701263
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val) rs199551935
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg) rs2139553655
NM_001846.4(COL4A2):c.487G>T (p.Gly163Ter) rs1880611671

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