ClinVar Miner

List of variants reported as pathogenic for Rett syndrome, congenital variant by Genetic Services Laboratory, University of Chicago

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Total variants: 11
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NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.170_179del (p.His57fs) rs587783631
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) rs121913678

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