ClinVar Miner

Variants in gene combination AOPEP, FANCC 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:

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
1284 170 0 58 40 0 2 87

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 30 1 0 0
likely pathogenic 30 0 2 0 0
uncertain significance 1 2 0 35 15
likely benign 0 0 35 0 28
benign 0 0 15 28 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03187
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02117
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01342
NM_000136.3(FANCC):c.686+30C>T rs1800363 0.01287
NM_000136.3(FANCC):c.*96A>G rs55687573 0.00893
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00385
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00095
NM_000136.3(FANCC):c.1329+212C>T rs41281200 0.00058
NM_000136.3(FANCC):c.1329+111C>T rs527823099 0.00056
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00040
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00034
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00013
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00010
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00010
NM_000136.3(FANCC):c.896+6C>T rs199525333 0.00010
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00007
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00007
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939 0.00006
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00006
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.*8G>A rs753428914 0.00004
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 0.00004
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902 0.00004
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.675G>A (p.Glu225=) rs760906091 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1155-1G>C rs1554829575 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.1068T>A (p.Pro356=) rs1414649531
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1330-10T>C rs1386511892
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1395G>A (p.Gln465=) rs2540809733
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1527C>T (p.Ile509=) rs1554828322
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.567A>C (p.Pro189=) rs2135428194
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.826del (p.Phe275_Ile276insTer) rs1564678441
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter) rs1425473449
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865

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