ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245 0.00002
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val) rs796052460
NM_005249.5(FOXG1):c.500_501insC (p.Glu167fs)
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser) rs1881809272

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