ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NM_005249.5(FOXG1):c.1376C>G (p.Ser459Cys) rs1566445990
NM_005249.5(FOXG1):c.141_143CCA[4] (p.His55_His57del) rs587783630
NM_005249.5(FOXG1):c.141_143CCA[5] (p.His56_His57del) rs587783630
NM_005249.5(FOXG1):c.158_172del (p.His53_His57del)
NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del) rs587783632
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln) rs727503933
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.219_221GCC[8] (p.Pro79_Pro80dup) rs786200975
NM_005249.5(FOXG1):c.251C>G (p.Pro84Arg) rs866815665
NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys) rs398124202
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147
NM_005249.5(FOXG1):c.281A>C (p.Asp94Ala) rs1206977063
NM_005249.5(FOXG1):c.314_318delinsAGCCGCCGCCA (p.Pro105_Pro106insGlnPro)
NM_005249.5(FOXG1):c.323C>T (p.Pro108Leu)
NM_005249.5(FOXG1):c.347T>C (p.Leu116Pro)
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455
NM_005249.5(FOXG1):c.431_436AGAAGG[3] (p.144_145EK[3])
NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp) rs547825816
NM_005249.5(FOXG1):c.443G>A (p.Gly148Asp)
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460
NM_005249.5(FOXG1):c.466_468AAG[1] (p.Lys157del) rs1424025007
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn) rs398124205
NM_005249.5(FOXG1):c.554G>C (p.Ser185Thr)
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935

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