ClinVar Miner

Variants in gene F5 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:

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
1273 73 1 58 56 1 7 114

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 drug response
pathogenic 1 10 3 0 2 1
likely pathogenic 10 0 3 0 0 0
uncertain significance 3 3 0 48 12 1
likely benign 0 0 48 0 48 0
benign 2 0 12 48 0 0
drug response 1 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000130.5(F5):c.5419+12A>G rs6009 0.92617
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30567
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.28700
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24628
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24548
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24547
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24537
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16200
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05508
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05166
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.04678
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02292
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01740
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01251
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01106
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000130.5(F5):c.3751T>C (p.Leu1251=) rs1403856375 0.00287
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00258
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00257
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00166
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00133
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00109
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00078
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00076
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00064
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00036
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00031
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00031
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00027
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00023
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00023
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00021
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00017
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter) rs780253174 0.00005
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722 0.00002
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.436C>T (p.Arg146Ter) rs767477438 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000130.4(F5):c.5668G>A (p.Glu1890Lys) rs386834228
NM_000130.5(F5):c.1281C>G (p.Val427=) rs1292267151
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter) rs2526378815
NM_000130.5(F5):c.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5721T>C (p.Cys1907=) rs886045543

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