ClinVar Miner

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

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Total variants: 16
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NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138
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.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
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.763T>A (p.Trp255Arg) rs1566445533
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361

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