ClinVar Miner

List of variants reported as likely pathogenic for FOXG1 disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.156_160del (p.His52fs) rs1881779084
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.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
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.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

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