List of variants reported as pathogenic for Cerebral folate transport deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)	rs121918405	0.00001
NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter)	rs121918406	0.00001
NC_000011.9:g.(?_71903218)_(71903405_?)del
NC_000011.9:g.(?_71903218)_(72019668_?)del
NC_000011.9:g.(?_71906295)_(71907221_?)del
NM_016729.3(FOLR1):c.181_182del (p.Arg61fs)
NM_016729.3(FOLR1):c.257G>A (p.Trp86Ter)	rs1555069069
NM_016729.3(FOLR1):c.321C>A (p.Tyr107Ter)
NM_016729.3(FOLR1):c.330_333dup (p.Asn112fs)	rs767252235
NM_016729.3(FOLR1):c.428G>A (p.Trp143Ter)	rs2135388735
NM_016729.3(FOLR1):c.584_587del (p.His195fs)	rs753776182

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