ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308

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