ClinVar Miner

List of variants studied for Rett syndrome, congenital variant by 3billion

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs) rs2138661880
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs) rs2138660628
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) rs2138661139
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.844dup (p.Ala282fs) rs2138661638
NM_005249.5(FOXG1):c.958del (p.Arg320fs) rs1555321382

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