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	gnomAD frequency
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)	rs138747073
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	rs398124204
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
NM_005249.5(FOXG1):c.969del (p.Ser323fs)	rs786205011

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