ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023

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