ClinVar Miner

Variants in gene FN1 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
951 62 0 29 10 0 1 39

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 4 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 8 3
likely benign 0 0 8 0 25
benign 0 0 3 25 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.2592C>T (p.Ser864=) rs74574217 0.01052
NM_212482.4(FN1):c.1425G>C (p.Gly475=) rs59884263 0.01019
NM_212482.4(FN1):c.1530C>T (p.Ala510=) rs61263981 0.01017
NM_212482.4(FN1):c.3837C>T (p.Thr1279=) rs61732520 0.00656
NM_212482.4(FN1):c.121T>G (p.Ser41Ala) rs112946345 0.00576
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_212482.4(FN1):c.199C>A (p.Arg67=) rs112643151 0.00519
NM_212482.4(FN1):c.4444C>T (p.Arg1482Cys) rs116558455 0.00146
NM_212482.4(FN1):c.751A>T (p.Asn251Tyr) rs55822567 0.00130
NM_212482.4(FN1):c.2130C>T (p.Thr710=) rs140116931 0.00113
NM_212482.4(FN1):c.547+19T>C rs183120644 0.00099
NM_212482.4(FN1):c.1002G>A (p.Thr334=) rs138271073 0.00094
NM_212482.4(FN1):c.3517+3A>G rs201910111 0.00073
NM_212482.4(FN1):c.5435-7T>C rs202045892 0.00068
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) rs138593265 0.00045
NM_212482.4(FN1):c.887C>T (p.Pro296Leu) rs145123731 0.00045
NM_212482.4(FN1):c.5532A>C (p.Arg1844=) rs149965879 0.00040
NM_212482.4(FN1):c.547+10T>C rs376212853 0.00034
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu) rs139452116 0.00034
NM_212482.4(FN1):c.807G>A (p.Lys269=) rs149709418 0.00024
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) rs199957523 0.00019
NM_212482.4(FN1):c.2144C>T (p.Thr715Met) rs144664306 0.00017
NM_212482.4(FN1):c.2714-11_2714-10del rs371418810 0.00017
NM_212482.4(FN1):c.4257C>T (p.Leu1419=) rs141157994 0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_212482.4(FN1):c.1782T>C (p.Ile594=) rs201143720 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_212482.4(FN1):c.2112A>G (p.Thr704=) rs1326049626 0.00002
NM_212482.4(FN1):c.3951C>T (p.Asp1317=) rs763439987 0.00001
NM_212482.4(FN1):c.1942-38GT[9] rs5838511
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.4(FN1):c.5274G>T (p.Ser1758=) rs34923683
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr) rs1559604072
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val) rs17449032
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.4(FN1):c.6853+12C>G rs111303746
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131

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