ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Invitae

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Total variants: 67
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HGVS dbSNP
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
NM_005249.5(FOXG1):c.1122C>T (p.Tyr374=) rs777855975
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108
NM_005249.5(FOXG1):c.1320C>G (p.Ser440=) rs1057524328
NM_005249.5(FOXG1):c.1376C>G (p.Ser459Cys) rs1566445990
NM_005249.5(FOXG1):c.1399C>T (p.Leu467=) rs371279404
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.159C>T (p.His53=) rs769410384
NM_005249.5(FOXG1):c.164_166ACC[4] (p.His57dup) rs772407998
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs) rs1555321206
NM_005249.5(FOXG1):c.180G>C (p.Pro60=) rs1555321214
NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del) rs587783632
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944
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_211AGC[5] (p.Gln73dup) rs398124201
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.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
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.245C>A (p.Pro82Gln) rs796052453
NM_005249.5(FOXG1):c.246G>C (p.Pro82=) rs1555321242
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.256del (p.Gln86fs) rs786205001
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.324A>G (p.Pro108=) rs750512461
NM_005249.5(FOXG1):c.347T>C (p.Leu116Pro)
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.417C>T (p.Pro139=) rs1018810212
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.447C>T (p.Ala149=) rs112803404
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
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.489C>T (p.Gly163=) rs375378714
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.554G>C (p.Ser185Thr)
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter)
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_005249.5(FOXG1):c.946del (p.Leu316fs) rs1555321380
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs)

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