ClinVar Miner

List of variants reported as pathogenic for Rett syndrome, congenital variant by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)

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