ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.485dup (p.Gly163fs) rs2138660968
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.85del (p.Gln29fs) rs1594382746

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