ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs) rs1555321206
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter)
NM_005249.5(FOXG1):c.946del (p.Leu316fs) rs1555321380
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs)

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