ClinVar Miner

Variants in gene FOXG1 with conflicting interpretations

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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
718 68 0 51 32 0 6 76

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 21 2 0 0
likely pathogenic 21 0 5 0 0
uncertain significance 2 5 0 24 16
likely benign 0 0 24 0 30
benign 0 0 16 30 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.221C>A (p.Pro74Gln) rs796052452 0.01958
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453 0.00030
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944 0.00029
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_005249.5(FOXG1):c.*4C>T rs774917687 0.00012
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860 0.00012
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742 0.00010
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359 0.00004
NM_005249.5(FOXG1):c.162T>C (p.His54=) rs796052448 0.00004
NM_005249.5(FOXG1):c.165C>T (p.His55=) rs796052449 0.00004
NM_005249.5(FOXG1):c.251C>A (p.Pro84His) rs866815665 0.00004
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460 0.00004
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265 0.00003
NM_005249.5(FOXG1):c.189G>T (p.Pro63=) rs796052451 0.00002
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203 0.00002
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly) rs752379833 0.00001
NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys) rs398124202 0.00001
NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln) rs1046668279 0.00001
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147 0.00001
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys) rs1029176730 0.00001
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) rs1594384127
NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del) rs587783630
NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup) rs587783630
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup) rs761703699
NM_005249.5(FOXG1):c.194_214del (p.Pro65_Gln71del)
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del) rs1466028633
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.227C>T (p.Pro76Leu) rs1381438340
NM_005249.5(FOXG1):c.237_239del (p.Pro80del)
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.344C>T (p.Ala115Val) rs796052454
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) rs1001642335
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.699G>T (p.Leu233=) rs2138661396
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.953A>T (p.His318Leu) rs2138661790
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn) rs748001255

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