ClinVar Miner

Variants in gene COL6A3 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:
ClinVar version:

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
1429 122 0 76 95 0 5 171

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 3 0 0 0
likely pathogenic 3 0 5 0 0
uncertain significance 0 5 0 93 6
likely benign 0 0 93 0 73
benign 0 0 6 73 0

All variants with conflicting interpretations #

Total variants: 171
Download table as spreadsheet
HGVS dbSNP
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1095G>C (p.Gly365=) rs535498742
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1146G>A (p.Gln382=) rs368800027
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1248G>A (p.Leu416=) rs150219857
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.1785C>T (p.Ile595=) rs114278376
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.1898-5T>C rs373563217
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2145G>T (p.Ser715=) rs375924639
NM_004369.3(COL6A3):c.2196G>A (p.Thr732=) rs768242367
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2343G>A (p.Ala781=) rs561804945
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2487C>T (p.Leu829=) rs752530417
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.2497+9C>A rs774198344
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
NM_004369.3(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736
NM_004369.3(COL6A3):c.2754C>T (p.Tyr918=) rs114492689
NM_004369.3(COL6A3):c.285G>A (p.Thr95=) rs373435541
NM_004369.3(COL6A3):c.2994G>A (p.Ser998=) rs768233315
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3063A>G (p.Pro1021=) rs200098134
NM_004369.3(COL6A3):c.3071-16G>A rs73998896
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3228C>G (p.Thr1076=) rs886042997
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3279C>T (p.Asn1093=) rs777242754
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.3507C>T (p.Asn1169=) rs138426138
NM_004369.3(COL6A3):c.3680-5C>T rs370146203
NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) rs542411896
NM_004369.3(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.3(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440
NM_004369.3(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800
NM_004369.3(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.3(COL6A3):c.4047C>T (p.Asp1349=) rs115893145
NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) rs35524572
NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.4146G>A (p.Ser1382=) rs114791158
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4254G>A (p.Lys1418=) rs528204718
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4491C>T (p.Ala1497=) rs558665283
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4524C>G (p.Leu1508=) rs755902927
NM_004369.3(COL6A3):c.4677C>T (p.Phe1559=) rs147215386
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.4900+10G>A rs189411873
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) rs140516220
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.543T>C (p.Asp181=) rs898779231
NM_004369.3(COL6A3):c.5501-4C>G rs143237699
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6105G>A (p.Lys2035=) rs35556524
NM_004369.3(COL6A3):c.6132G>T (p.Gly2044=) rs762950440
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6156+5G>A rs112374074
NM_004369.3(COL6A3):c.6180C>T (p.Tyr2060=) rs115130936
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6519C>T (p.Thr2173=) rs776493521
NM_004369.3(COL6A3):c.6592-27del rs60436236
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6639C>A (p.Gly2213=) rs765837100
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6754-9C>G rs886038542
NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) rs116541926
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.6930+4C>T rs375657891
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6957A>G (p.Pro2319=) rs777752945
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.7029+10C>T rs376525317
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7551C>T (p.Asn2517=) rs570963533
NM_004369.3(COL6A3):c.7590G>A (p.Val2530=) rs115591088
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.7702C>T (p.Leu2568=) rs201479636
NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.774C>T (p.Phe258=) rs766589204
NM_004369.3(COL6A3):c.7755T>C (p.His2585=) rs145581705
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.843G>T (p.Val281=) rs376201065
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698
NM_004369.3(COL6A3):c.8805G>A (p.Ala2935=) rs200111289
NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) rs11683438
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) rs11690358
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) rs183247300
NM_004369.3(COL6A3):c.9198C>T (p.Val3066=) rs765101399
NM_004369.3(COL6A3):c.9213C>T (p.His3071=) rs2270671
NM_004369.3(COL6A3):c.9329-33C>T rs398124137
NM_004369.3(COL6A3):c.9345G>A (p.Pro3115=) rs748814297
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.3(COL6A3):c.9444C>T (p.Asn3148=) rs144291325
NM_004369.3(COL6A3):c.9494-10C>T rs184617787
NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) rs568632361
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004369.4(COL6A3):c.4156G>A rs146092501
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.4(COL6A3):c.5839-3C>T rs112825341
NM_004369.4(COL6A3):c.7447A>G rs139260335
NM_004369.4(COL6A3):c.761del rs780921503
NM_057166.5(COL6A3):c.4147C>T (p.Arg1383Trp) rs146546544

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