ClinVar Miner

List of variants in gene FOXG1 reported as pathogenic by Ambry Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
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.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.717C>G (p.Phe239Leu) rs1555321339
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.776C>G (p.Pro259Arg) rs869312961
NM_005249.5(FOXG1):c.859A>T (p.Lys287Ter) rs1555321367

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