ClinVar Miner

Variants in gene FAT1 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
797 125 0 51 19 0 1 70

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 17 3
likely benign 0 17 0 51
benign 0 3 51 0

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005245.4(FAT1):c.6609C>T (p.His2203=) rs35389971 0.01944
NM_005245.4(FAT1):c.10487T>C (p.Val3496Ala) rs35216841 0.01126
NM_005245.4(FAT1):c.9901T>C (p.Tyr3301His) rs73873659 0.01042
NM_005245.4(FAT1):c.10141A>G (p.Ser3381Gly) rs73873657 0.01041
NM_005245.4(FAT1):c.6054C>A (p.Asn2018Lys) rs73873662 0.01036
NM_005245.4(FAT1):c.12498G>A (p.Ala4166=) rs60404529 0.01029
NM_005245.4(FAT1):c.2035G>A (p.Val679Ile) rs61733571 0.01006
NM_005245.4(FAT1):c.12653A>G (p.Asp4218Gly) rs72716244 0.00950
NM_005245.4(FAT1):c.12257+10T>A rs77814178 0.00878
NM_005245.4(FAT1):c.11592G>T (p.Thr3864=) rs141298894 0.00869
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_005245.4(FAT1):c.9463+10G>A rs75337800 0.00790
NM_005245.4(FAT1):c.4754C>T (p.Thr1585Met) rs111886222 0.00784
NM_005245.4(FAT1):c.3803G>A (p.Arg1268Gln) rs113970444 0.00774
NM_005245.4(FAT1):c.741C>T (p.Ile247=) rs35939569 0.00632
NM_005245.4(FAT1):c.5384G>A (p.Arg1795Gln) rs56790426 0.00622
NM_005245.4(FAT1):c.3597G>A (p.Thr1199=) rs115460650 0.00494
NM_005245.4(FAT1):c.7698C>T (p.Val2566=) rs192818736 0.00479
NM_005245.4(FAT1):c.13042C>A (p.Leu4348Ile) rs80120846 0.00467
NM_005245.4(FAT1):c.2163G>A (p.Pro721=) rs140935307 0.00461
NM_005245.4(FAT1):c.12330C>T (p.Gly4110=) rs116628547 0.00411
NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu) rs200633985 0.00375
NM_005245.4(FAT1):c.12567T>C (p.Val4189=) rs35694170 0.00220
NM_005245.4(FAT1):c.12522G>A (p.Pro4174=) rs72716245 0.00217
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly) rs188733415 0.00208
NM_005245.4(FAT1):c.3749A>G (p.Tyr1250Cys) rs142805532 0.00191
NM_005245.4(FAT1):c.5646A>G (p.Pro1882=) rs116471329 0.00138
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala) rs201279606 0.00108
NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe) rs61747592 0.00105
NM_005245.4(FAT1):c.12622C>T (p.Arg4208Trp) rs201960763 0.00103
NM_005245.4(FAT1):c.3912G>A (p.Pro1304=) rs367959722 0.00098
NM_005245.4(FAT1):c.2955C>T (p.Ile985=) rs200907501 0.00086
NM_005245.4(FAT1):c.7057T>G (p.Ser2353Ala) rs146085516 0.00078
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile) rs200097846 0.00076
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_005245.4(FAT1):c.1146C>A (p.Pro382=) rs371822287 0.00057
NM_005245.4(FAT1):c.3874G>A (p.Glu1292Lys) rs184443677 0.00051
NM_005245.4(FAT1):c.10194C>T (p.Leu3398=) rs373756658 0.00041
NM_005245.4(FAT1):c.12186C>G (p.Leu4062=) rs143744017 0.00032
NM_005245.4(FAT1):c.4689C>T (p.Thr1563=) rs188759859 0.00031
NM_005245.4(FAT1):c.2236A>G (p.Thr746Ala) rs372906523 0.00026
NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser) rs200662687 0.00016
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr) rs34805028 0.00016
NM_005245.4(FAT1):c.4599+6C>T rs201798649 0.00015
NM_005245.4(FAT1):c.441G>A (p.Pro147=) rs201487149 0.00010
NM_005245.4(FAT1):c.2836A>G (p.Ile946Val) rs778221022 0.00002
NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter) rs373689624 0.00001
NM_005245.4(FAT1):c.12909C>T (p.Ser4303=) rs554536909 0.00001
NM_005245.4(FAT1):c.2706A>C (p.Arg902Ser) rs555992573 0.00001
NM_005245.4(FAT1):c.10069-10T>C
NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)
NM_005245.4(FAT1):c.10519G>A (p.Glu3507Lys)
NM_005245.4(FAT1):c.11997C>T (p.Ile3999=) rs188825200
NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)
NM_005245.4(FAT1):c.1714A>G (p.Ile572Val)
NM_005245.4(FAT1):c.1906G>A (p.Ala636Thr)
NM_005245.4(FAT1):c.2426A>G (p.His809Arg)
NM_005245.4(FAT1):c.2798G>A (p.Arg933His) rs61733570
NM_005245.4(FAT1):c.3217A>G (p.Ile1073Val)
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met) rs149295542
NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met)
NM_005245.4(FAT1):c.5313A>G (p.Thr1771=)
NM_005245.4(FAT1):c.5505G>A (p.Leu1835=)
NM_005245.4(FAT1):c.6122G>A (p.Arg2041His)
NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)
NM_005245.4(FAT1):c.6414A>G (p.Lys2138=)
NM_005245.4(FAT1):c.6498G>A (p.Ala2166=)
NM_005245.4(FAT1):c.675G>A (p.Ala225=)
NM_005245.4(FAT1):c.7957G>A (p.Gly2653Ser)
NM_005245.4(FAT1):c.9448A>G (p.Thr3150Ala)

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.