ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs) rs2138660420
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)

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