ClinVar Miner

Variants in gene COL5A1 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:
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
2291 210 0 84 45 1 8 130

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 5 0 0 0 0 0
likely pathogenic 5 0 7 0 0 0 0
uncertain significance 1 8 0 33 18 1 1
likely benign 0 0 32 0 79 0 0
benign 0 0 17 79 0 0 0

All variants with conflicting interpretations #

Total variants: 130
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.2089-8G>A rs368595229 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.5(COL5A1):c.786+1G>A
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.