ClinVar Miner

List of variants reported as not provided for Rett syndrome, congenital variant by GenomeConnect - Brain Gene Registry

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 14q12(chr14:28688830-30017377)x1
NM_005249.5(FOXG1):c.136dup (p.Gln46fs)	rs587783629
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	rs398124204

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