ClinVar Miner

List of variants reported as likely pathogenic for FOXG1 disorder by Centre for Population Genomics, CPG

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.133_469delinsACCCACCGCCCC (p.Pro45fs)
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.610C>T (p.Leu204Phe) rs786205006
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
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.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011

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