ClinVar Miner

List of variants reported for Rett syndrome, congenital variant by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.314_335del (p.Pro105fs) rs2502224768
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213

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