ClinVar Miner

List of variants in gene FOXG1 reported as likely pathogenic by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1190C>T (p.Ser397Phe) rs1057521783
NM_005249.5(FOXG1):c.1439A>G (p.Gln480Arg) rs148410675
NM_005249.5(FOXG1):c.265_266dup (p.Ala92fs) rs1594383151
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) rs1555321301
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) rs1555321311
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.671G>A (p.Gly224Asp) rs796052481
NM_005249.5(FOXG1):c.719T>G (p.Val240Gly) rs1064796823
NM_005249.5(FOXG1):c.731G>A (p.Arg244His) rs796052484
NM_005249.5(FOXG1):c.761A>G (p.Tyr254Cys) rs1085307966
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469

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