ClinVar Miner

List of variants in gene FOXG1 studied for Inborn genetic diseases

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Gene type:
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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
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.206C>A (p.Pro69Gln) rs727503933 0.00057
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.181C>T (p.Pro61Ser) rs762634382 0.00021
NM_005249.5(FOXG1):c.1200C>T (p.Tyr400=) rs138747073 0.00019
NM_005249.5(FOXG1):c.852G>A (p.Leu284=) rs537686463 0.00016
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.1399C>T (p.Leu467=) rs371279404 0.00006
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp) rs547825816 0.00006
NM_005249.5(FOXG1):c.1254C>T (p.Phe418=) rs777770149 0.00005
NM_005249.5(FOXG1):c.235C>T (p.Pro79Ser) rs1054291031 0.00004
NM_005249.5(FOXG1):c.324A>G (p.Pro108=) rs750512461 0.00004
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265 0.00003
NM_005249.5(FOXG1):c.1263C>G (p.Val421=) rs373079213 0.00001
NM_005249.5(FOXG1):c.131A>C (p.His44Pro) rs1555321183 0.00001
NM_005249.5(FOXG1):c.159C>T (p.His53=) rs769410384 0.00001
NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln) rs1046668279 0.00001
NM_005249.5(FOXG1):c.1006A>G (p.Ser336Gly)
NM_005249.5(FOXG1):c.1043A>G (p.Asn348Ser)
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.115CAC[1] (p.His40del) rs756685121
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu) rs1555321437
NM_005249.5(FOXG1):c.1337A>T (p.Gln446Leu)
NM_005249.5(FOXG1):c.138G>A (p.Gln46=)
NM_005249.5(FOXG1):c.138G>C (p.Gln46His)
NM_005249.5(FOXG1):c.1395G>A (p.Thr465=) rs369183477
NM_005249.5(FOXG1):c.141CCA[3] (p.His54_His57del)
NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del) rs587783630
NM_005249.5(FOXG1):c.141CCA[5] (p.His56_His57del) rs587783630
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del) rs587783630
NM_005249.5(FOXG1):c.1456C>T (p.Pro486Ser)
NM_005249.5(FOXG1):c.1465C>T (p.His489Tyr)
NM_005249.5(FOXG1):c.196C>A (p.Pro66Thr)
NM_005249.5(FOXG1):c.201G>A (p.Pro67=)
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.219GCC[5] (p.Pro80del) rs786200975
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.219GCC[8] (p.Pro79_Pro80dup) rs786200975
NM_005249.5(FOXG1):c.233_247del (p.Pro78_Pro82del) rs1466765630
NM_005249.5(FOXG1):c.235C>A (p.Pro79Thr)
NM_005249.5(FOXG1):c.237_239del (p.Pro80del)
NM_005249.5(FOXG1):c.259A>C (p.Thr87Pro) rs1566445056
NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser) rs906816341
NM_005249.5(FOXG1):c.280GAC[2] (p.Asp96del) rs1318259337
NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)
NM_005249.5(FOXG1):c.315GCC[4] (p.Pro112dup) rs1319234983
NM_005249.5(FOXG1):c.333A>G (p.Pro111=) rs1566445121
NM_005249.5(FOXG1):c.409_432del (p.Leu137_Glu144del)
NM_005249.5(FOXG1):c.421G>A (p.Gly141Arg)
NM_005249.5(FOXG1):c.443G>T (p.Gly148Val) rs781726187
NM_005249.5(FOXG1):c.451G>C (p.Ala151Pro) rs1881796451
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.503G>T (p.Gly168Val) rs148157138
NM_005249.5(FOXG1):c.505G>A (p.Gly169Ser) rs530084654
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.567C>T (p.Leu189=) rs748766934
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.680A>T (p.Asn227Ile)
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.705CAA[1] (p.Asn236del)
NM_005249.5(FOXG1):c.717C>G (p.Phe239Leu) rs1555321339
NM_005249.5(FOXG1):c.729G>A (p.Pro243=) rs774525510
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.749G>A (p.Gly250Asp) rs1881807337
NM_005249.5(FOXG1):c.776C>G (p.Pro259Arg) rs869312961
NM_005249.5(FOXG1):c.810G>A (p.Thr270=)
NM_005249.5(FOXG1):c.811G>T (p.Gly271Cys)
NM_005249.5(FOXG1):c.859A>T (p.Lys287Ter) rs1555321367
NM_005249.5(FOXG1):c.900G>A (p.Met300Ile) rs866923607
NM_005249.5(FOXG1):c.933G>T (p.Ser311=) rs1481653005
NM_005249.5(FOXG1):c.95A>G (p.Asn32Ser) rs1429160286

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