List of variants in gene SLC7A9 reported as likely pathogenic for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00238
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00017
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	rs140873167	0.00006
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	rs121908484	0.00004
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)	rs769448665	0.00001
NM_014270.5(SLC7A9):c.88-2A>G	rs1085307095	0.00001
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)	rs140179068
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)	rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	rs988712826
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)	rs753121162
NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer)	rs2145846311
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)	rs12150890
NM_014270.5(SLC7A9):c.450_452del (p.Val151del)	rs1294838201
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)
NM_014270.5(SLC7A9):c.749+1G>C	rs1060499787

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