ClinVar Miner

List of variants reported as likely pathogenic for Rett syndrome, congenital variant by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr)	rs1594384249
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)	rs1566445489
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)

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