ClinVar Miner

Variants in gene VWF 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
1195 257 0 89 53 1 30 141

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 risk factor
pathogenic 0 30 10 0 0 1
likely pathogenic 30 0 25 4 1 1
uncertain significance 10 25 0 49 23 1
likely benign 0 4 49 0 59 0
benign 0 1 23 59 0 0
risk factor 1 1 1 0 0 0

All variants with conflicting interpretations #

Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile) rs111971143 0.00436
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000552.5(VWF):c.1596C>T (p.Gly532=) rs111240043 0.00251
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp) rs112319661 0.00195
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.6303C>A (p.Gly2101=) rs115914543 0.00132
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr) rs141777100 0.00049
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys) rs184921605 0.00032
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr) rs71579338 0.00025
NM_000552.5(VWF):c.1519A>G (p.Arg507Gly) rs189409574 0.00019
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.8273C>T (p.Ala2758Val) rs144542595 0.00008
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.1110-6dup rs534403271
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu) rs139196998
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4414G>T (p.Asp1472Tyr)
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly) rs2136412301
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.7081+4A>T
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
NM_000552.5(VWF):c.7774G>A (p.Gly2592Arg)
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)

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