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 Variants with at least 2 submissions 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 kind of conflict
698 150 0 109 129 0 10 234

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 6 2 3 2
likely pathogenic 6 0 6 1 0
uncertain significance 2 6 0 128 11
likely benign 3 1 128 0 103
benign 2 0 11 103 0

All variants with conflicting interpretations #

Total variants: 234
Download table as spreadsheet
HGVS dbSNP
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) rs115155458
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.1208C>T (p.Pro403Leu) rs547651808
NM_004369.3(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175
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.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1557C>T (p.Asp519=) rs145586177
NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1620A>G (p.Ser540=) rs200205650
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) rs112040282
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.1761C>T (p.Ala587=) rs34978064
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.1975C>T (p.Arg659Cys) rs146291186
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.1977C>T (p.Arg659=) rs141280228
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2196G>A (p.Thr732=) rs768242367
NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863
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.2756C>T (p.Ala919Val) rs115327470
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.2994G>A (p.Ser998=) rs768233315
NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
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.3088G>A (p.Val1030Met) rs116238578
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455
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.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921
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.3445C>T (p.Arg1149Trp) rs113360085
NM_004369.3(COL6A3):c.3456C>T (p.Ser1152=) rs112815265
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.3732C>T (p.Ala1244=) rs193265138
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
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.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.4032G>A (p.Ser1344=) rs145048734
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.4104G>A (p.Thr1368=) rs777649526
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
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.414C>T (p.Ala138=) rs148996231
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) rs151289203
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952
NM_004369.3(COL6A3):c.4671C>T (p.Ser1557=) rs116760648
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.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) rs140516220
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
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.5179C>T (p.Arg1727Trp) rs143074017
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) rs202086524
NM_004369.3(COL6A3):c.543T>C (p.Asp181=) rs898779231
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
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.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) rs151234107
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.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5839-3C>T rs112825341
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
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.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
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.6799G>A (p.Gly2267Ser) rs749855513
NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=) rs374952003
NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946
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.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7029+10C>T rs376525317
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) rs375729592
NM_004369.3(COL6A3):c.7175-6C>G rs199723531
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.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) rs541928674
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.7575G>A (p.Gln2525=) rs752232293
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346
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.7755T>C (p.His2585=) rs145581705
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547
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.7953G>A (p.Met2651Ile) rs369537287
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.8137A>G (p.Arg2713Gly) rs772602377
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8457C>T (p.Phe2819=) rs138683303
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.8465-7delT rs111494366
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn) rs115729513
NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698
NM_004369.3(COL6A3):c.8724C>T (p.Ala2908=) rs114684687
NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
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.8970G>A (p.Lys2990=) rs113721676
NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) rs201888442
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.9148G>A (p.Ala3050Thr) rs114596320
NM_004369.3(COL6A3):c.9213C>T (p.His3071=) rs2270671
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9329-33C>T rs398124137
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
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.9498C>T (p.Leu3166=) rs150376179
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839

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