ClinVar Miner

List of variants reported as pathogenic for Rett syndrome, congenital variant by OMIM

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Total variants: 7
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HGVS dbSNP
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827

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