ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.777del (p.Ser260fs) rs1594383798
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)

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