ClinVar Miner

List of variants in gene FOXG1 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs) rs1881815891
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs) rs2138661880
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.156_160del (p.His52fs) rs1881779084
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs) rs2138660420
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs) rs2138660628
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.515dup (p.Glu173fs) rs2138661058
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu) rs796052461
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) rs587783638
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) rs1555321311
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp) rs2138661170
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) rs2138661244
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr) rs2138661267
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.653A>G (p.Tyr218Cys) rs1881804364
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) rs786205007
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
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.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp) rs587783640
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys) rs767873754
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser) rs1881809272
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.844dup (p.Ala282fs) rs2138661638
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)

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