ClinVar Miner

Variants in gene combination FANCA, ZNF276 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
772 124 0 39 42 0 14 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 31 9 3 3
likely pathogenic 31 0 5 0 0
uncertain significance 9 5 0 39 4
likely benign 3 0 39 0 8
benign 3 0 4 8 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05989
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000135.4(FANCA):c.3935-9G>A rs9282680 0.01028
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00163
NM_000135.4(FANCA):c.4167+46C>T rs191404781 0.00092
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00074
NM_000135.4(FANCA):c.4261-8T>G rs372268907 0.00049
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 0.00025
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000135.4(FANCA):c.3829-9G>A rs776077648 0.00022
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00020
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.4261-9C>G rs368506826 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00010
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00008
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00008
NM_000135.4(FANCA):c.3766-14G>A rs34476949 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00003
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00003
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) rs750839091 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00003
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) rs778544563 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219 0.00001
NM_000135.4(FANCA):c.4168-11T>C rs753475025 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828 0.00001
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs) rs1403231932
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3935-7G>A rs2062071481
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs) rs1461376582
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+12C>T rs1445940471
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4011-9T>C rs2151712130
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs) rs2544080144
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4168-4C>T rs775180524
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4261-19_4261-12del rs1567591276
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.