ClinVar Miner

List of variants reported as likely pathogenic for Rett syndrome, congenital variant by Genetic Services Laboratory, University of Chicago

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Total variants: 6
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HGVS dbSNP
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643

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